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Goldenhar syndrome(HFM)

MedGen UID:
75554
Concept ID:
C0265240
Congenital Abnormality; Disease or Syndrome
Synonyms: Facio-auriculo-vertebral Syndrome; Facioauriculovertebral sequence; FAv sequence; First and second branchial arch syndrome; First arch syndrome; Goldenhar disease; Hemifacial microsomia; HFM; OAV dysplasia; Oculoauriculovertebral dysplasia; Oculoauriculovertebral spectrum; Otomandibular Dysostosis
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: HPO
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Otomandibular dysostosis (109393007); Otomandibular syndrome (109393007); First arch syndrome (15557005); Facio-auriculo-vertebral spectrum (367462009); Facio-auriculo-vertebral spectrum (367462009); Goldenhar syndrome (205418005); Facio-auriculo-vertebral spectrum (205418005); Oculoauricular vertebral dysplasia (205418005); First AND second branchial arch syndrome (254025006); Craniofacial microsomia (254026007); First and second branchial arch syndrome (367462009)
 
OMIM®: 164210

Disease characteristics

Excerpted from the GeneReview: Craniofacial Microsomia Overview
Craniofacial microsomia (CFM) includes a spectrum of malformations primarily involving structures derived from the first and second branchial arches. Characteristic findings include facial asymmetry resulting from maxillary and/or mandibular hypoplasia; preauricular or facial tags; ear malformations that can include microtia (hypoplasia of the external ear), anotia (absence of the external ear), or aural atresia (absence of the external ear canal); and hearing loss. Severity can range from subtle facial asymmetry with a small skin tag in front of an otherwise normal-appearing ear to bilateral involvement (typically asymmetric), microtia/anotia with atresia of the ear canals, microphthalmia, and respiratory compromise from severe mandibular hypoplasia. Other craniofacial malformations including cleft lip and/or palate can be seen. Non-craniofacial malformations, especially vertebral, renal, cardiac, and limb, can be seen. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Definition  |  Causes of CFM  |  Evaluation Strategy  |  Genetic Counseling  |  Resources  |  Management  |  References  |  Chapter Notes
Authors:
Carrie L Heike  |  Daniela V Luquetti  |  Anne V Hing   view full author information

Additional descriptions

From OMIM
Hemifacial microsomia is a common birth defect involving the first and second branchial arch derivatives. It typically affects the external ear, middle ear, mandible and temporomandibular joint, muscles of mastication and facial muscles, and other facial soft tissues on the affected side. In some cases, other facial structures, such as the orbit, eye, nose, cranium, or neck, may be involved. Involvement is usually limited to one side, but bilateral involvement is known. In addition to craniofacial anomalies, there may be cardiac, vertebral, and central nervous system defects. The phenotype is highly variable. Most cases are sporadic, but there are rare familial cases that exhibit autosomal dominant inheritance (summary by Poole, 1989 and Hennekam et al., 2010). See also hemifacial microsomia with radial defects (141400) and oculoauriculofrontonasal dysplasia (OAFNS; 601452), which may be part of the OAV spectrum.  http://www.omim.org/entry/164210
From GHR
Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures. Most people with craniofacial microsomia have differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry). In about two-thirds of cases, both sides of the face have abnormalities, which usually differ from one side to the other. Other individuals with craniofacial microsomia are affected on only one side of the face. The facial characteristics in craniofacial microsomia typically include underdevelopment of one side of the upper or lower jaw (maxillary or mandibular hypoplasia), which can cause dental problems and difficulties with feeding and speech. In cases of severe mandibular hypoplasia, breathing may also be affected.People with craniofacial microsomia usually have ear abnormalities affecting one or both ears, typically to different degrees. They may have growths of skin (skin tags) in front of the ear (preauricular tags), an underdeveloped or absent external ear (microtia or anotia), or a closed or absent ear canal; these abnormalities may lead to hearing loss. Eye problems are less common in craniofacial microsomia, but some affected individuals have an unusually small eyeball (microphthalmia) or other eye abnormalities that result in vision loss.Abnormalities in other parts of the body, such as malformed bones of the spine (vertebrae), abnormally shaped kidneys, and heart defects, may also occur in people with craniofacial microsomia.Many other terms have been used for craniofacial microsomia. These other names generally refer to forms of craniofacial microsomia with specific combinations of signs and symptoms, although sometimes they are used interchangeably. Hemifacial microsomia often refers to craniofacial microsomia with maxillary or mandibular hypoplasia. People with hemifacial microsomia and noncancerous (benign) growths in the eye called epibulbar dermoids may be said to have Goldenhar syndrome or oculoauricular dysplasia.  http://ghr.nlm.nih.gov/condition/craniofacial-microsomia

Clinical features

Coarctation of aorta
MedGen UID:
1617
Concept ID:
C0003492
Congenital Abnormality
A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion.
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
Persistent patency of the ductus arteriosus, or patent ductus arteriosus (PDA), is the second most common congenital heart disease, affecting approximately 1 in 1,600 to 5,000 live births in the U.S. (Mitchell et al., 1971). In fetal life, the ductus arteriosus, a muscular artery, shunts blood from the pulmonary artery to the aorta, bypassing the lungs. Its abrupt closure at birth establishes the mature circulatory pattern and represents a dramatic example of vascular remodeling. Failure of this normal process results in persistent PDA, which left untreated can result in pulmonary hypertension and heart failure. Closure of the ductus is a complex process. Aspects of this process are regulated by oxygen tension and a decrease in levels of hormones such as prostaglandin E2. PDA occurring in preterm infants often closes spontaneously or in response to inhibitors of prostaglandin biosynthesis (Ramsay et al., 1987). Term PDA typically has not been regarded as a genetic disorder, because it most often occurs sporadically. Nonetheless, term PDA recurs among 5% of sibs of PDA cases (Polani and Campbell, 1960; Lamy et al., 1957), suggesting a genetic component to disease pathogenesis that has typically been presumed to be multifactorial. That single genes can influence this trait has been demonstrated by a mouse model of PDA resulting from disruption of the prostaglandin E2 receptor (Nguyen et al., 1997) and by rare syndromic forms of PDA such as Char syndrome (169100), an autosomal dominant disorder caused by mutations in the transcription factor TFAP2B (601601) (Mani et al., 2002). Genetic Heterogeneity of Patent Ductus Arteriosus Autosomal dominant forms of patent ductus arteriosus include PDA2 (617035), caused by mutation in the TFAP2B gene (601601) on chromosome 6p12, and PDA3 (617039), caused by mutation in the PRDM6 gene (616982) on chromosome 5q23. Hajj and Dagle (2012) reviewed the genetics of patent ductus arteriosus in both term and preterm infants, and discussed possible environmental risk factors as well as animal models of PDA.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Anatomical Abnormality
Developmental abnormalities in any portion of the VENTRICULAR SEPTUM resulting in abnormal communications between the two lower chambers of the heart. Classification of ventricular septal defects is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect.
Tetralogy of Fallot
MedGen UID:
21498
Concept ID:
C0039685
Congenital Abnormality
Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.Although babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.Some people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.Each of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.People with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.
Anophthalmia
MedGen UID:
314
Concept ID:
C0003119
Congenital Abnormality
Congenital absence of the eye or eyes.
Microphthalmos
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other.
Visual impairment
MedGen UID:
22663
Concept ID:
C0042798
Finding
Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.).
Epibulbar dermoid
MedGen UID:
401267
Concept ID:
C1867616
Neoplastic Process
An epibulbar dermoid is a benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).
Aplasia/Hypoplasia affecting the eye
MedGen UID:
870303
Concept ID:
C4024745
Finding
Vesicoureteral reflux 1
MedGen UID:
21852
Concept ID:
C0042580
Disease or Syndrome
Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of the ureterovesical junction (UVJ). In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy (RN). Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, and renal insufficiency (summary by Lu et al., 2007). Genetic Heterogeneity of Vesicoureteral Reflux A locus designated VUR1 maps to chromosome 1p13. VUR2 (610878) is caused by mutation in the ROBO2 gene (602431) on chromosome 3p12.3; VUR3 (613674) is caused by mutation in the SOX17 gene (610928) on chromosome 8q11.23; VUR4 (614317) maps to chromosome 5; VUR5 (614318) maps to chromosome 13; VUR6 (614319) maps to chromosome 18; VUR7 (615390) maps to chromosome 12; and VUR8 (615963) is caused by mutation in the TNXB gene (600985) on chromosome 6p21. A possible X-linked form has been reported (VURX; 314550).
Ectopic kidney
MedGen UID:
68661
Concept ID:
C0238207
Congenital Abnormality
A developmental defect in which a kidney is located in an abnormal anatomic position.
Obstruction of pelviureteric junction
MedGen UID:
105482
Concept ID:
C0521619
Finding
Blockage of urine flow from the renal pelvis to the proximal ureter.
Renal agenesis
MedGen UID:
154237
Concept ID:
C0542519
Congenital Abnormality
Agenesis, that is, failure of the kidney to develop during embryogenesis and development.
Renal hypoplasia/aplasia
MedGen UID:
387822
Concept ID:
C1857453
Finding
Absence or underdevelopment of the kidney.
Multicystic kidney
MedGen UID:
811388
Concept ID:
C3714581
Disease or Syndrome
A nongenetic defect due to malformation of the KIDNEY which appears as a bunch of grapes with multiple renal cysts but lacking the normal renal bean shape, and the collection drainage system. This condition can be detected in-utero with ULTRASONOGRAPHY.
Abnormal localization of kidney
MedGen UID:
866621
Concept ID:
C4020968
Anatomical Abnormality
An abnormal site of the kidney.
Aplasia/Hypoplasia of the thumb
MedGen UID:
465975
Concept ID:
C3179508
Finding
Hypoplastic/small or absent thumb.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Deafness
MedGen UID:
4155
Concept ID:
C0011053
Finding
A decreased magnitude of the sensory perception of sound.
Conductive hearing loss
MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
Hearing loss due to interference with the mechanical reception or amplification of sound to the COCHLEA. The interference is in the outer or middle ear involving the EAR CANAL; TYMPANIC MEMBRANE; or EAR OSSICLES.
Sensorineural hearing loss
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.
Microtia
MedGen UID:
57535
Concept ID:
C0152423
Congenital Abnormality
Underdevelopment of the external ear.
Anotia
MedGen UID:
152377
Concept ID:
C0702139
Congenital Abnormality
Complete absence of any auricular structures.
Atresia of the external auditory canal
MedGen UID:
235602
Concept ID:
C1398325
Congenital Abnormality
Absence or failure to form of the external auditory canal.
Unilateral external ear deformity
MedGen UID:
322330
Concept ID:
C1834043
Finding
Low-set, posteriorly rotated ears
MedGen UID:
387834
Concept ID:
C1857486
Finding
Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358).
Abnormality of the middle ear
MedGen UID:
348799
Concept ID:
C1861141
Finding
An abnormality of the middle ear.
Abnormality of the inner ear
MedGen UID:
867435
Concept ID:
C4021809
Anatomical Abnormality
An abnormality of the inner ear.
Arnold-Chiari malformation
MedGen UID:
2065
Concept ID:
C0003803
Congenital Abnormality
Chiari malformations (CMs) are structural defects in the cerebellum. The cerebellum is the part of the brain that controls balance. With CM, brain tissue extends into the spinal canal. It can happen when part of the skull is too small, which pushes the brain tissue down. There are several types of CM. Some cause no symptoms and don't need treatment. If you have symptoms, they may include. -Neck pain. -Balance problems. -Numbness or other abnormal feelings in the arms or legs. -Dizziness. -Vision problems. -Difficulty swallowing. -Poor hand coordination. Doctors diagnose CM using imaging tests. Medicines may ease some symptoms, such as pain. Surgery is the only treatment available to correct or stop the progression of nerve damage. NIH: National Institute of Neurological Disorders and Stroke.
Autistic disorder of childhood onset
MedGen UID:
13966
Concept ID:
C0004352
Mental or Behavioral Dysfunction
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options. Genetic Heterogeneity of Autism Autism is considered to be a complex multifactorial disorder involving many genes. Accordingly, several loci have been identified, some or all of which may contribute to the phenotype. Included in this entry is AUTS1, which has been mapped to chromosome 7q22. Other susceptibility loci include AUTS3 (608049), which maps to chromosome 13q14; AUTS4 (608636), which maps to chromosome 15q11; AUTS5 (606053), which maps to chromosome 2q; AUTS6 (609378), which maps to chromosome 17q11; AUTS7 (610676), which maps to chromosome 17q21; AUTS8 (607373), which maps to chromosome 3q25-q27; AUTS9 (611015), which maps to chromosome 7q31; AUTS10 (611016), which maps to chromosome 7q36; AUTS11 (610836), which maps to chromosome 1q41; AUTS12 (610838), which maps to chromosome 21p13-q11; AUTS13 (610908), which maps to chromosome 12q14; AUTS14A (611913), which has been found in patients with a deletion of a region of 16p11.2; AUTS14B (614671), which has been found in patients with a duplication of a region of 16p11.2; AUTS15 (612100), associated with mutation in the CNTNAP2 gene (604569) on chromosome 7q35-q36; AUTS16 (613410), associated with mutation in the SLC9A9 gene (608396) on chromosome 3q24; AUTS17 (613436), associated with mutation in the SHANK2 gene (603290) on chromosome 11q13; and AUTS18 (615032), associated with mutation in the CHD8 gene (610528). (NOTE: the symbol 'AUTS2' has been used to refer to a gene on chromosome 7q11 (KIAA0442; 607270) and therefore is not used as a part of this autism locus series.) There are several X-linked forms of autism susceptibility: AUTSX1 (300425), associated with mutations in the NLGN3 gene (300336); AUTSX2 (300495), associated with mutations in NLGN4 (300427); AUTSX3 (300496), associated with mutations in MECP2 (300005); AUTSX4 (300830), associated with variation in the region on chromosome Xp22.11 containing the PTCHD1 gene (300828); AUTSX5 (300847), associated with mutations in the RPL10 gene (312173); and AUTSX6 (300872), associated with mutation in the TMLHE gene (300777). Folstein and Rosen-Sheidley (2001) reviewed the genetics of autism.
Occipital encephalocele
MedGen UID:
4935
Concept ID:
C0014067
Anatomical Abnormality
A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Autosomal recessive nonsyndromic hydrocephalus is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012). Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (307000), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (100800) and in Hurler disease (607014). Genetic Heterogeneity of Congenital Hydrocephalus See also autosomal recessive HYC2 (615219), caused by mutation in the MPDZ gene (603785) on chromosome 9p. An X-linked form (307000) is caused by mutation in the L1CAM gene on (308840) on chromosome Xq28.
Intellectual functioning disability
MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Neurological speech impairment
MedGen UID:
11531
Concept ID:
C0037822
Disease or Syndrome
A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders.
Corpus callosum agenesis
MedGen UID:
104498
Concept ID:
C0175754
Congenital Abnormality
The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.
Brain atrophy
MedGen UID:
116012
Concept ID:
C0235946
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Cognitive impairment
MedGen UID:
90932
Concept ID:
C0338656
Mental or Behavioral Dysfunction
a condition where a person has problems with the ability to think and learn
Hypoplasia or absence of the corpus callosum
MedGen UID:
354608
Concept ID:
C1861866
Finding
Absence or underdevelopment of the corpus callosum.
Dilated ventricles (finding)
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
Tracheoesophageal fistula
MedGen UID:
21228
Concept ID:
C0040588
Anatomical Abnormality
Abnormal passage between the ESOPHAGUS and the TRACHEA, acquired or congenital, often associated with ESOPHAGEAL ATRESIA.
Laryngomalacia
MedGen UID:
120500
Concept ID:
C0264303
Congenital Abnormality
A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the LARYNX. This results in a floppy laryngeal wall making patency difficult to maintain.
Pulmonary hypoplasia
MedGen UID:
78574
Concept ID:
C0265783
Congenital Abnormality
A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.
Tracheomalacia
MedGen UID:
215296
Concept ID:
C0948187
Disease or Syndrome
A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the TRACHEA. This results in a floppy tracheal wall making patency difficult to maintain. It is characterized by wheezing and difficult breathing.
Aplasia/Hypoplasia of the lungs
MedGen UID:
870548
Concept ID:
C4024996
Finding
Tracheoesophageal fistula
MedGen UID:
21228
Concept ID:
C0040588
Anatomical Abnormality
Abnormal passage between the ESOPHAGUS and the TRACHEA, acquired or congenital, often associated with ESOPHAGEAL ATRESIA.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
Hypoplasia of facial musculature
MedGen UID:
320257
Concept ID:
C1834042
Finding
Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
Occipital encephalocele
MedGen UID:
4935
Concept ID:
C0014067
Anatomical Abnormality
A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.
Congenital micrognathism
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Maxillary hypoplasia
MedGen UID:
66804
Concept ID:
C0240310
Anatomical Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Hemivertebrae
MedGen UID:
82720
Concept ID:
C0265677
Congenital Abnormality
Absence of one half of the vertebral body.
Vertebral hypoplasia
MedGen UID:
87502
Concept ID:
C0345394
Congenital Abnormality
Small, underdeveloped vertebral bodies.
Vertebral segmentation defect
MedGen UID:
96577
Concept ID:
C0432163
Congenital Abnormality
An abnormality related to a defect of vertebral separation during development.
Scoliosis
MedGen UID:
195976
Concept ID:
C0700208
Finding
The presence of an abnormal lateral curvature of the spine.
Abnormal form of the vertebral bodies
MedGen UID:
374194
Concept ID:
C1839326
Finding
Abnormal morphology of vertebral body.
Abnormality of the ribs
MedGen UID:
330763
Concept ID:
C1842083
Anatomical Abnormality
An anomaly of the rib.
Block vertebrae
MedGen UID:
375498
Concept ID:
C1844753
Finding
Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies).
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Anatomical Abnormality
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Aplasia/Hypoplasia of the thumb
MedGen UID:
465975
Concept ID:
C3179508
Finding
Hypoplastic/small or absent thumb.
Anophthalmia
MedGen UID:
314
Concept ID:
C0003119
Congenital Abnormality
Congenital absence of the eye or eyes.
Blepharophimosis
MedGen UID:
2670
Concept ID:
C0005744
Disease or Syndrome
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Cleft lip
MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.
Cleft palate
MedGen UID:
3107
Concept ID:
C0008925
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Occipital encephalocele
MedGen UID:
4935
Concept ID:
C0014067
Anatomical Abnormality
A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.
Congenital macrostomia
MedGen UID:
44238
Concept ID:
C0024433
Congenital Abnormality
Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)
Congenital micrognathism
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Microphthalmos
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Maxillary hypoplasia
MedGen UID:
66804
Concept ID:
C0240310
Anatomical Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Coloboma of eyelid
MedGen UID:
141737
Concept ID:
C0521573
Disease or Syndrome
A congenital abnormality in which a part of the upper or lower eyelid tissue is missing.
Facial asymmetry
MedGen UID:
266298
Concept ID:
C1306710
Anatomical Abnormality
Congenital or acquired asymmetry of the face.
Hypoplasia of facial musculature
MedGen UID:
320257
Concept ID:
C1834042
Finding
Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Anatomical Abnormality
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Preauricular skin tag
MedGen UID:
395989
Concept ID:
C1860816
Finding
A rudimentary tag of sking often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).
Branchial anomaly
MedGen UID:
349421
Concept ID:
C1862066
Finding
Congenital developmental defect arising from the primitive branchial apparatus.
Upper eyelid coloboma
MedGen UID:
350283
Concept ID:
C1863872
Finding
A short discontinuity of the margin of the upper eyelid.
Epibulbar dermoid
MedGen UID:
401267
Concept ID:
C1867616
Neoplastic Process
An epibulbar dermoid is a benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).
Non-midline cleft lip
MedGen UID:
866673
Concept ID:
C4021020
Congenital Abnormality
Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.
Abnormality of the pharynx
MedGen UID:
871345
Concept ID:
C4025838
Anatomical Abnormality
An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.
Preauricular skin tag
MedGen UID:
395989
Concept ID:
C1860816
Finding
A rudimentary tag of sking often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Tuin J, Tahiri Y, Paliga JT, Taylor JA, Bartlett SP
J Craniofac Surg 2015 Sep;26(6):1887-92. doi: 10.1097/SCS.0000000000002017. PMID: 26267577
Cortese A, Pantaleo G, Amato M, Claudio PP
J Craniofac Surg 2015 Jul;26(5):1628-30. doi: 10.1097/SCS.0000000000001859. PMID: 26114537
Baugh AD, Wooten W, Chapman B, Drake AF, Vaughn BV
Int J Pediatr Otorhinolaryngol 2015 Mar;79(3):356-8. Epub 2014 Dec 25 doi: 10.1016/j.ijporl.2014.12.024. [Epub ahead of print] PMID: 25636665
Al Kaissi A, Ben Chehida F, Ganger R, Klaushofer K, Grill F
Eur Spine J 2015 Mar;24(3):594-9. Epub 2014 Feb 7 doi: 10.1007/s00586-014-3204-3. [Epub ahead of print] PMID: 24504787
Aizenbud D, Shoham NV, Constantini S, Nevo N, Ben Arush M, Raz M, Rachmiel A, Goldsher D
J Craniomaxillofac Surg 2014 Jul;42(5):e91-6. Epub 2013 Aug 13 doi: 10.1016/j.jcms.2013.07.003. [Epub ahead of print] PMID: 23953647

Diagnosis

Tuin J, Tahiri Y, Paliga JT, Taylor JA, Bartlett SP
J Craniofac Surg 2015 Sep;26(6):1887-92. doi: 10.1097/SCS.0000000000002017. PMID: 26267577
Baugh AD, Wooten W, Chapman B, Drake AF, Vaughn BV
Int J Pediatr Otorhinolaryngol 2015 Mar;79(3):356-8. Epub 2014 Dec 25 doi: 10.1016/j.ijporl.2014.12.024. [Epub ahead of print] PMID: 25636665
Saccomanno S, Greco F, D'Alatri L, De Corso E, Pandolfini M, Sergi B, Pirronti T, Deli R
Acta Otorhinolaryngol Ital 2014 Aug;34(4):283-7. PMID: 25210224Free PMC Article
Hennersdorf F, Friese N, Löwenheim H, Tropitzsch A, Ernemann U, Bisdas S
Otol Neurotol 2014 Jun;35(5):826-30. doi: 10.1097/MAO.0000000000000278. PMID: 24686288
Aizenbud D, Shoham NV, Constantini S, Nevo N, Ben Arush M, Raz M, Rachmiel A, Goldsher D
J Craniomaxillofac Surg 2014 Jul;42(5):e91-6. Epub 2013 Aug 13 doi: 10.1016/j.jcms.2013.07.003. [Epub ahead of print] PMID: 23953647

Therapy

Gundlach KK, Höltje WJ
J Craniomaxillofac Surg 2013 Sep;41(6):450-6. Epub 2013 Jan 3 doi: 10.1016/j.jcms.2012.11.025. [Epub ahead of print] PMID: 23290272
Allen F, Riopelle J, Sinha A
Anesth Analg 2011 Jan;112(1):198-200. Epub 2010 Oct 21 doi: 10.1213/ANE.0b013e3181fca689. [Epub ahead of print] PMID: 20966441
Farra C, Yunis K, Mikati M, Yazbeck N, Majdalani M, Awwad J
Birth Defects Res A Clin Mol Teratol 2010 Jul;88(7):582-5. doi: 10.1002/bdra.20674. PMID: 20641101
Nakagawa Y, Takeuchi H, Kubota A, Natsume H, Nasuda K, Endoh A, Toya K, Ogawa H, Igarashi Y
Jpn J Hum Genet 1993 Jun;38(2):225-8. doi: 10.1007/BF01883714. PMID: 8358046
Gustavson EE, Chen H
Teratology 1985 Aug;32(1):13-7. doi: 10.1002/tera.1420320103. PMID: 4035586

Prognosis

Cortese A, Pantaleo G, Amato M, Claudio PP
J Craniofac Surg 2015 Jul;26(5):1628-30. doi: 10.1097/SCS.0000000000001859. PMID: 26114537
Manara R, Brotto D, Ghiselli S, Mardari R, Toldo I, Schifano G, Cantone E, Bovo R, Martini A
AJNR Am J Neuroradiol 2015 Jul;36(7):1375-80. Epub 2015 Mar 26 doi: 10.3174/ajnr.A4273. [Epub ahead of print] PMID: 25814660
Pagnoni M, Fadda MT, Cascone P, Iannetti G
J Craniomaxillofac Surg 2014 Jul;42(5):616-22. Epub 2013 Sep 25 doi: 10.1016/j.jcms.2013.09.002. [Epub ahead of print] PMID: 24269644
Aizenbud D, Shoham NV, Constantini S, Nevo N, Ben Arush M, Raz M, Rachmiel A, Goldsher D
J Craniomaxillofac Surg 2014 Jul;42(5):e91-6. Epub 2013 Aug 13 doi: 10.1016/j.jcms.2013.07.003. [Epub ahead of print] PMID: 23953647
Allen F, Riopelle J, Sinha A
Anesth Analg 2011 Jan;112(1):198-200. Epub 2010 Oct 21 doi: 10.1213/ANE.0b013e3181fca689. [Epub ahead of print] PMID: 20966441

Clinical prediction guides

Al Kaissi A, Ben Chehida F, Ganger R, Klaushofer K, Grill F
Eur Spine J 2015 Mar;24(3):594-9. Epub 2014 Feb 7 doi: 10.1007/s00586-014-3204-3. [Epub ahead of print] PMID: 24504787
Saccomanno S, Greco F, D'Alatri L, De Corso E, Pandolfini M, Sergi B, Pirronti T, Deli R
Acta Otorhinolaryngol Ital 2014 Aug;34(4):283-7. PMID: 25210224Free PMC Article
Bogusiak K, Arkuszewski P, Skorek-Stachnik K, Kozakiewicz M
J Craniofac Surg 2014 Jan;25(1):177-83. doi: 10.1097/SCS.0000000000000387. PMID: 24406574
Guzelmansur I, Ceylaner G, Ceylaner S, Ceylan N, Daplan T
Genet Couns 2013;24(3):319-25. PMID: 24341148
Cingano L, Cohen E, Cohen A, Giordanetto J, Loria P, Calcagno E
Minerva Stomatol 2013 Oct;62(10):375-85. PMID: 24217685

Recent systematic reviews

Caron CJ, Pluijmers BI, Joosten KF, Mathijssen IM, van der Schroeff MP, Dunaway DJ, Wolvius EB, Koudstaal MJ
Int J Oral Maxillofac Surg 2015 Jun;44(6):732-7. Epub 2015 Mar 12 doi: 10.1016/j.ijom.2015.02.014. [Epub ahead of print] PMID: 25771070
Caron CJ, Pluijmers BI, Joosten KF, Mathijssen IM, van der Schroeff MP, Dunaway DJ, Wolvius EB, Koudstaal MJ
Int J Oral Maxillofac Surg 2015 May;44(5):592-8. Epub 2015 Mar 11 doi: 10.1016/j.ijom.2015.01.023. [Epub ahead of print] PMID: 25769220
Xu S, Zhang Z, Tang X, Yin L, Liu W, Shi L
J Craniofac Surg 2015 Mar;26(2):384-7. doi: 10.1097/SCS.0000000000001336. PMID: 25723655
Tahiri Y, Chang CS, Tuin J, Paliga JT, Lowe KM, Taylor JA, Bartlett SP
Plast Reconstr Surg 2015 Feb;135(2):530-41. doi: 10.1097/PRS.0000000000000914. PMID: 25626797
Pluijmers BI, Caron CJ, Dunaway DJ, Wolvius EB, Koudstaal MJ
Int J Oral Maxillofac Surg 2014 Mar;43(3):286-95. Epub 2013 Dec 12 doi: 10.1016/j.ijom.2013.11.001. [Epub ahead of print] PMID: 24332589

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