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Chondrodysplasia punctata 2 X-linked dominant(CDPX2)

MedGen UID:
79381
Concept ID:
C0282102
Disease or Syndrome
Synonyms: CDPX2; Chondrodysplasia Punctata 2, X-Linked; Chondrodysplasia punctata, X-linked dominant; Conrad Hunermann Happle syndrome; CONRADI-HUNERMANN-HAPPLE SYNDROME; Happle syndrome; Hunermann-Conradi Syndrome
Modes of inheritance:
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
Sources: HPO, Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
SNOMED CT: Chondrodysplasia punctata, Conradi-Hünermann type (398719004); Chondrodysplasia punctata, X-linked dominant type (398958000); Conradi's syndrome (398719004); Conradi disease (398719004); Conradi-Hunermann syndrome (398719004); Chondrodysplasia calcificans congenita (398719004); Chondrodysplasia punctata, Conradi-Hunermann type (398719004); Conradi-Hünermann syndrome (398719004)
 
Gene (location): EBP (Xp11.23)
OMIM®: 302960
Orphanet: ORPHA35173

Definition

The findings in X-linked chondrodysplasia punctata 2 (CDPX2) range from fetal demise with multiple malformations and severe growth retardation to much milder manifestations, including adults with no recognizable physical abnormalities. At least 95% of liveborn individuals with CDPX2 are female with the following findings: Growth deficiency/short stature. Distinctive craniofacial appearance. Skeletal changes: stippling (chondrodysplasia punctate) on x-rays of the epiphyses of the long bones and vertebrae, the trachea and distal ends of the ribs seen in children prior to completion of normal epiphyseal ossification; rhizomelic (i.e., proximal) shortening of limbs that is often asymmetric; scoliosis. Ectodermal changes: linear or blotchy scaling ichthyosis in the newborn that usually resolves in the first months of life leaving linear or whorled atrophic patches involving hair follicles (follicular atrophoderma); coarse hair with scarring alopecia; occasional flattened or split nails; normal teeth. Ocular changes: cataracts; microphthalmia and/or microcornea. Intellect is usually normal. Rarely affected males have been identified with a phenotype that includes: hypotonia; moderate to profound developmental delay; seizures; cerebellar (primarily vermis) hypoplasia and/or Dandy-Walker variant; and agenesis of the corpus callosum. [from GeneReviews]

Additional descriptions

From OMIM
Chondrodysplasia punctata (CDP) is a clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. X-linked dominant CDP, also known as Conradi-Hunermann syndrome, is the most well-characterized form. CDPX2 arises almost exclusively in females and is usually lethal in males. In addition to radiographic stippling, the disorder is characterized by rhizomelic shortness, transient congenital ichthyosis following the lines of Blaschko, patchy alopecia, cataracts, and midface hypoplasia. Affected males are extremely rare and the clinical features in males almost always result from postzygotic mosaicism for an EBP mutation (summary by Aughton et al., 2003 and Arnold et al., 2012). Genetic Heterogeneity of Chondrodysplasia Punctata See also CDPX1 (302950), caused by mutation in the ARSE gene (300180). See 118650, 602497, and 118651 for possible autosomal dominant forms of CDP. In addition, CDP can be caused by maternal vitamin K deficiency or warfarin teratogenicity (see 118650).  http://www.omim.org/entry/302960
From GHR
X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females.Although the signs and symptoms of this condition vary widely, almost all affected individuals have chondrodysplasia punctata, an abnormality that appears on x-rays as spots (stippling) near the ends of bones and in cartilage. In this form of chondrodysplasia punctata, the stippling typically affects the long bones in the arms and legs, the ribs, the spinal bones (vertebrae), and the cartilage that makes up the windpipe (trachea). The stippling is apparent in infancy but disappears in early childhood. Other skeletal abnormalities seen in people with X-linked chondrodysplasia punctata 2 include shortening of the bones in the upper arms and thighs (rhizomelia) that is often different on the right and left sides, and progressive abnormal curvature of the spine (kyphoscoliosis). As a result of these abnormalities, people with this condition tend to have short stature.Infants with X-linked chondrodysplasia punctata 2 are born with dry, scaly patches of skin (ichthyosis) in a linear or spiral (whorled) pattern. The scaly patches fade over time, leaving abnormally colored blotches of skin without hair (follicular atrophoderma). Most affected individuals also have sparse, coarse hair on their scalps.Most people with X-linked chondrodysplasia punctata 2 have clouding of the lens of the eye (cataracts) from birth or early childhood. Other eye abnormalities that have been associated with this disorder include unusually small eyes (microphthalmia) and small corneas (microcornea). The cornea is the clear front surface of the eye. These eye abnormalities can impair vision.In affected females, X-linked chondrodysplasia punctata 2 is typically associated with normal intelligence and a normal lifespan. However, a much more severe form of the condition has been reported in a small number of males. Affected males have some of the same features as affected females, as well as weak muscle tone (hypotonia), changes in the structure of the brain, moderately to profoundly delayed development, seizures, distinctive facial features, and other birth defects. The health problems associated with X-linked chondrodysplasia punctata 2 are often life-threatening in males.  https://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-2

Clinical features

Ptosis of eyelid
MedGen UID:
2287
Concept ID:
C0005745
Anatomical Abnormality
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, excessive tearing, and abnormal sensitivity to light (photophobia). The term "early-onset glaucoma" may be used when the disorder appears before the age of 40.In most people with glaucoma, the damage to the optic nerves is caused by increased pressure within the eyes (intraocular pressure). Intraocular pressure depends on a balance between fluid entering and leaving the eyes.Usually glaucoma develops in older adults, in whom the risk of developing the disorder may be affected by a variety of medical conditions including high blood pressure (hypertension) and diabetes mellitus, as well as family history. The risk of early-onset glaucoma depends mainly on heredity.Structural abnormalities that impede fluid drainage in the eye may be present at birth and usually become apparent during the first year of life. Such abnormalities may be part of a genetic disorder that affects many body systems, called a syndrome. If glaucoma appears before the age of 5 without other associated abnormalities, it is called primary congenital glaucoma.Other individuals experience early onset of primary open-angle glaucoma, the most common adult form of glaucoma. If primary open-angle glaucoma develops during childhood or early adulthood, it is called juvenile open-angle glaucoma.
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.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Acquired Abnormality
A cataract is a clouding of the lens in your eye. It affects your vision. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery. A cataract can occur in either or both eyes. It cannot spread from one eye to the other. Common symptoms are. -Blurry vision. -Colors that seem faded. -Glare - headlights, lamps or sunlight may seem too bright. You may also see a halo around lights. -Not being able to see well at night. -Double vision . -Frequent prescription changes in your eye wear . Cataracts usually develop slowly. New glasses, brighter lighting, anti-glare sunglasses or magnifying lenses can help at first. Surgery is also an option. It involves removing the cloudy lens and replacing it with an artificial lens. Wearing sunglasses and a hat with a brim to block ultraviolet sunlight may help to delay cataracts. NIH: National Eye Institute.
Microcornea
MedGen UID:
78610
Concept ID:
C0266544
Congenital Abnormality
A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.
Aplasia/Hypoplasia affecting the eye
MedGen UID:
870303
Concept ID:
C4024745
Finding
Hydronephrosis
MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
Abnormal enlargement or swelling of a KIDNEY due to dilation of the KIDNEY CALICES and the KIDNEY PELVIS. It is often associated with obstruction of the URETER or chronic kidney diseases that prevents normal drainage of urine into the URINARY BLADDER.
Polydactyly of toes
MedGen UID:
510637
Concept ID:
C0158734
Congenital Abnormality
A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
Postaxial polydactyly type A1
MedGen UID:
67394
Concept ID:
C0220697
Disease or Syndrome
Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by Umm-e-Kalsoom et al., 2012). Genetic Heterogeneity of Postaxial Polydactyly Other loci for autosomal dominant postaxial polydactyly type A include PAPA2 (602085) on chromosome 13q21, PAPA3 (607324) on chromosome 19p13, and PAPA4 (608562) on chromosome 7q22. An autosomal recessive form of postaxial polydactyly, PAPA5 (263450), has been mapped to chromosome 13q13.
Short extremities
MedGen UID:
116086
Concept ID:
C0239399
Finding
Limb shortening because of underdevelopment of one or more bones of the extremities.
Hemiatrophy
MedGen UID:
451036
Concept ID:
C0333662
Pathologic Function
Undergrowth of the limbs that affects only one side.
Dislocation of patellofemoral joint
MedGen UID:
253896
Concept ID:
C1135812
Injury or Poisoning
Displacement of the PATELLA from the femoral groove.
Talipes
MedGen UID:
220976
Concept ID:
C1301937
Congenital Abnormality
A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.
Bilateral clubfeet
MedGen UID:
332956
Concept ID:
C1837835
Finding
Bilateral clubfoot deformity (see HP:0001762).
Stippled calcification in carpal bones
MedGen UID:
337100
Concept ID:
C1844846
Finding
Point-shaped (punctate) calcifications affecting the carpal bones.
Tarsal stippling
MedGen UID:
337101
Concept ID:
C1844848
Finding
The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Failure to thrive
MedGen UID:
115900
Concept ID:
C0231246
Finding
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Hemiatrophy
MedGen UID:
451036
Concept ID:
C0333662
Pathologic Function
Undergrowth of the limbs that affects only one side.
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.
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Asymmetric growth
MedGen UID:
867636
Concept ID:
C4022025
Finding
A growth pattern that displays an abnormal difference between the left and the right side.
Deafness
MedGen UID:
4155
Concept ID:
C0011053
Finding
A decreased magnitude of the sensory perception of sound.
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.
Simple ear
MedGen UID:
140913
Concept ID:
C0431483
Congenital Abnormality
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Dandy-Walker syndrome
MedGen UID:
4150
Concept ID:
C0010964
Disease or Syndrome
Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus. DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by Murray et al., 1985).
Moderate mental retardation (I.Q. 35-49)
MedGen UID:
7680
Concept ID:
C0026351
Mental or Behavioral Dysfunction
Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
Tracheal stenosis
MedGen UID:
21227
Concept ID:
C0040583
Disease or Syndrome
Narrowing of the lumen of the trachea.
Tracheal calcification
MedGen UID:
75539
Concept ID:
C0264324
Disease or Syndrome
Calcification (abnormal deposits of calcium) in the tracheal tissues.
Erythroderma
MedGen UID:
3767
Concept ID:
C0011606
Disease or Syndrome
An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.
Edema
MedGen UID:
4451
Concept ID:
C0013604
Pathologic Function
Edema means swelling caused by fluid in your body's tissues. It usually occurs in the feet, ankles and legs, but it can involve your entire body. Causes of edema include. -Eating too much salt. -Sunburn. -Heart failure. -Kidney disease. -Liver problems from cirrhosis. -Pregnancy. -Problems with lymph nodes, especially after mastectomy. -Some medicines. -Standing or walking a lot when the weather is warm. To keep swelling down, your health care provider may recommend keeping your legs raised when sitting, wearing support stockings, limiting how much salt you eat, or taking a medicine called a diuretic - also called a water pill. .
Elevated 8-dehydrocholesterol
MedGen UID:
333461
Concept ID:
C1840013
Finding
Elevated 8(9)-cholestenol
MedGen UID:
327010
Concept ID:
C1840014
Finding
Dandy-Walker syndrome
MedGen UID:
4150
Concept ID:
C0010964
Disease or Syndrome
Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus. DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by Murray et al., 1985).
Arthropathy
MedGen UID:
7190
Concept ID:
C0022408
Disease or Syndrome
A joint is where two or more bones come together, like the knee, hip, elbow, or shoulder. Joints can be damaged by many types of injuries or diseases, including. -Arthritis - inflammation of a joint. It causes pain, stiffness, and swelling. Over time, the joint can become severely damaged. -Bursitis - inflammation of a fluid-filled sac that cushions the joint. -Dislocations - injuries that force the ends of the bones out of position. Treatment of joint problems depends on the cause. If you have a sports injury, treatment often begins with the RICE (Rest, Ice, Compression, and Elevation) method to relieve pain, reduce swelling, and speed healing. Other possible treatments include pain relievers, keeping the injured area from moving, rehabilitation, and sometimes surgery. For arthritis, injuries, or other diseases, you may need joint replacement surgery to remove the damaged joint and put in a new one. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.
Kyphosis deformity of spine
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Deformities of the SPINE characterized by an exaggerated convexity of the vertebral column. The forward bending of the thoracic region usually is more than 40 degrees. This deformity sometimes is called round back or hunchback.
Polydactyly of toes
MedGen UID:
510637
Concept ID:
C0158734
Congenital Abnormality
A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
Postaxial polydactyly type A1
MedGen UID:
67394
Concept ID:
C0220697
Disease or Syndrome
Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by Umm-e-Kalsoom et al., 2012). Genetic Heterogeneity of Postaxial Polydactyly Other loci for autosomal dominant postaxial polydactyly type A include PAPA2 (602085) on chromosome 13q21, PAPA3 (607324) on chromosome 19p13, and PAPA4 (608562) on chromosome 7q22. An autosomal recessive form of postaxial polydactyly, PAPA5 (263450), has been mapped to chromosome 13q13.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Short extremities
MedGen UID:
116086
Concept ID:
C0239399
Finding
Limb shortening because of underdevelopment of one or more bones of the extremities.
Tracheal calcification
MedGen UID:
75539
Concept ID:
C0264324
Disease or Syndrome
Calcification (abnormal deposits of calcium) in the tracheal tissues.
Hemivertebrae
MedGen UID:
82720
Concept ID:
C0265677
Congenital Abnormality
Absence of one half of the vertebral body.
Hemiatrophy
MedGen UID:
451036
Concept ID:
C0333662
Pathologic Function
Undergrowth of the limbs that affects only one side.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Scoliosis
MedGen UID:
195976
Concept ID:
C0700208
Finding
The presence of an abnormal lateral curvature of the spine.
Dislocation of patellofemoral joint
MedGen UID:
253896
Concept ID:
C1135812
Injury or Poisoning
Displacement of the PATELLA from the femoral groove.
Abnormal form of the vertebral bodies
MedGen UID:
374194
Concept ID:
C1839326
Finding
Abnormal morphology of vertebral body.
Stippled calcification in carpal bones
MedGen UID:
337100
Concept ID:
C1844846
Finding
Point-shaped (punctate) calcifications affecting the carpal bones.
Tarsal stippling
MedGen UID:
337101
Concept ID:
C1844848
Finding
The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
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.
Epiphyseal stippling
MedGen UID:
349104
Concept ID:
C1859126
Anatomical Abnormality
The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses (FMA:24012).
Abnormality of pelvic girdle bone morphology
MedGen UID:
866545
Concept ID:
C4020847
Anatomical Abnormality
An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.
Cheekbone underdevelopment
MedGen UID:
866886
Concept ID:
C4021242
Anatomical Abnormality
Underdevelopment of the zygomatic bone [UBERON_0001683]. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.
Abnormality of the hip bone
MedGen UID:
867370
Concept ID:
C4021735
Anatomical Abnormality
An abnormality of the hip bone.
Abnormality of the thorax
MedGen UID:
867424
Concept ID:
C4021797
Anatomical Abnormality
Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).
Punctate vertebral calcifications
MedGen UID:
870240
Concept ID:
C4024678
Anatomical Abnormality
The presence of punctiform calcification of the bone of the vertebral bodies.
Dandy-Walker syndrome
MedGen UID:
4150
Concept ID:
C0010964
Disease or Syndrome
Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus. DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by Murray et al., 1985).
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.
Tooth malformation
MedGen UID:
11849
Concept ID:
C0040427
Congenital Abnormality
Congenital absence of or defects in structures of the teeth.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Concave nasal ridge
MedGen UID:
78105
Concept ID:
C0264169
Finding
Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.
Downward slant of palpebral fissure
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Madarosis of eyebrow
MedGen UID:
107912
Concept ID:
C0578682
Finding
Decreased density/number and/or decreased diameter of eyebrow hairs.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Sparse eyelashes
MedGen UID:
375151
Concept ID:
C1843300
Finding
Decreased density/number of eyelashes.
Flat face
MedGen UID:
336577
Concept ID:
C1849339
Finding
Absence of concavity or convexity of the face when viewed in profile.
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.
Cheekbone underdevelopment
MedGen UID:
866886
Concept ID:
C4021242
Anatomical Abnormality
Underdevelopment of the zygomatic bone [UBERON_0001683]. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
You lose up to 100 hairs from your scalp every day. That's normal, and in most people, those hairs grow back. But many men -- and some women -- lose hair as they grow older. You can also lose your hair if you have certain diseases, such as thyroid problems, diabetes, or lupus. If you take certain medicines or have chemotherapy for cancer, you may also lose your hair. Other causes are stress, a low protein diet, a family history, or poor nutrition. . Treatment for hair loss depends on the cause. In some cases, treating the underlying cause will correct the problem. Other treatments include medicines and hair restoration. .
Erythroderma
MedGen UID:
3767
Concept ID:
C0011606
Disease or Syndrome
An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.
Ichthyosis
MedGen UID:
7002
Concept ID:
C0020757
Disease or Syndrome
Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.
Congenital ichthyosiform erythroderma
MedGen UID:
86936
Concept ID:
C0079583
Disease or Syndrome
An ichthyosiform abnormality of the skin with congenital onset.
Madarosis of eyebrow
MedGen UID:
107912
Concept ID:
C0578682
Finding
Decreased density/number and/or decreased diameter of eyebrow hairs.
Sparse eyelashes
MedGen UID:
375151
Concept ID:
C1843300
Finding
Decreased density/number of eyelashes.
Abnormality of the fingernails
MedGen UID:
867411
Concept ID:
C4021782
Anatomical Abnormality
An abnormality of the fingernails.
Abnormal hair quantity
MedGen UID:
868983
Concept ID:
C4023397
Anatomical Abnormality
An abnormal amount of hair.
Abnormality of hair texture
MedGen UID:
869296
Concept ID:
C4023722
Anatomical Abnormality
An abnormality of the texture of the hair.
Aplasia/Hypoplasia of the skin
MedGen UID:
870295
Concept ID:
C4024737
Finding
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChondrodysplasia punctata 2 X-linked dominant

Recent clinical studies

Etiology

Lefebvre M, Dufernez F, Bruel AL, Gonzales M, Aral B, Saint-Onge J, Gigot N, Desir J, Daelemans C, Jossic F, Schmitt S, Mangione R, Pelluard F, Vincent-Delorme C, Labaune JM, Bigi N, D'Olne D, Delezoide AL, Toutain A, Blesson S, Cormier-Daire V, Thevenon J, El Chehadeh S, Masurel-Paulet A, Joyé N, Vibert-Guigue C, Rigonnot L, Rousseau T, Vabres P, Hervé P, Lamazière A, Rivière JB, Faivre L, Laurent N, Thauvin-Robinet C
Prenat Diagn 2015 Jul;35(7):675-84. Epub 2015 Mar 30 doi: 10.1002/pd.4591. [Epub ahead of print] PMID: 25754886
Lykissas MG, Sturm PF, McClung A, Sucato DJ, Riordan M, Hammerberg KW
J Pediatr Orthop 2013 Oct-Nov;33(7):685-93. doi: 10.1097/BPO.0b013e31829e86a9. PMID: 23836071
Martanová H, Krepelová A, Baxová A, Hansíková H, Cánský Z, Kvapil M, Gregor V, Magner M, Zeman J
Prague Med Rep 2007;108(3):263-9. PMID: 18399064
Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R
Spine (Phila Pa 1976) 2002 Sep 15;27(18):1995-2002. PMID: 12634559
Mueller RF, Crowle PM, Jones RA, Davison BC
Am J Med Genet 1985 Jan;20(1):137-44. doi: 10.1002/ajmg.1320200117. PMID: 4038582

Diagnosis

Posey JE, Burrage LC, Campeau PM, Lu JT, Eble TN, Kratz L, Schlesinger AE, Gibbs RA, Lee BH, Nagamani SC
Am J Med Genet A 2015 Jun;167(6):1309-14. Epub 2015 Apr 2 doi: 10.1002/ajmg.a.36899. [Epub ahead of print] PMID: 25846959Free PMC Article
Lefebvre M, Dufernez F, Bruel AL, Gonzales M, Aral B, Saint-Onge J, Gigot N, Desir J, Daelemans C, Jossic F, Schmitt S, Mangione R, Pelluard F, Vincent-Delorme C, Labaune JM, Bigi N, D'Olne D, Delezoide AL, Toutain A, Blesson S, Cormier-Daire V, Thevenon J, El Chehadeh S, Masurel-Paulet A, Joyé N, Vibert-Guigue C, Rigonnot L, Rousseau T, Vabres P, Hervé P, Lamazière A, Rivière JB, Faivre L, Laurent N, Thauvin-Robinet C
Prenat Diagn 2015 Jul;35(7):675-84. Epub 2015 Mar 30 doi: 10.1002/pd.4591. [Epub ahead of print] PMID: 25754886
Barboza-Cerda MC, Wong LJ, Martínez-de-Villarreal LE, Zhang VW, Déctor MA
Am J Med Genet A 2014 Jul;164A(7):1642-7. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36508. [Epub ahead of print] PMID: 24700572
Lykissas MG, Sturm PF, McClung A, Sucato DJ, Riordan M, Hammerberg KW
J Pediatr Orthop 2013 Oct-Nov;33(7):685-93. doi: 10.1097/BPO.0b013e31829e86a9. PMID: 23836071
Rakheja D, Read CP, Hull D, Boriack RL, Timmons CF
Pediatr Dev Pathol 2007 Mar-Apr;10(2):142-8. doi: 10.2350/06-06-0111.1. PMID: 17378690

Therapy

Lefebvre M, Dufernez F, Bruel AL, Gonzales M, Aral B, Saint-Onge J, Gigot N, Desir J, Daelemans C, Jossic F, Schmitt S, Mangione R, Pelluard F, Vincent-Delorme C, Labaune JM, Bigi N, D'Olne D, Delezoide AL, Toutain A, Blesson S, Cormier-Daire V, Thevenon J, El Chehadeh S, Masurel-Paulet A, Joyé N, Vibert-Guigue C, Rigonnot L, Rousseau T, Vabres P, Hervé P, Lamazière A, Rivière JB, Faivre L, Laurent N, Thauvin-Robinet C
Prenat Diagn 2015 Jul;35(7):675-84. Epub 2015 Mar 30 doi: 10.1002/pd.4591. [Epub ahead of print] PMID: 25754886
Morice-Picard F, Kostrzewa E, Wolf C, Benlian P, Taïeb A, Lacombe D
Arch Dermatol 2011 Sep;147(9):1073-6. doi: 10.1001/archdermatol.2011.230. PMID: 21931045
Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R
Spine (Phila Pa 1976) 2002 Sep 15;27(18):1995-2002. PMID: 12634559
Sato M, Ishikawa O, Miyachi Y
Dermatology 1996;192(1):23-7. PMID: 8832947

Prognosis

Barboza-Cerda MC, Wong LJ, Martínez-de-Villarreal LE, Zhang VW, Déctor MA
Am J Med Genet A 2014 Jul;164A(7):1642-7. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36508. [Epub ahead of print] PMID: 24700572
Lykissas MG, Sturm PF, McClung A, Sucato DJ, Riordan M, Hammerberg KW
J Pediatr Orthop 2013 Oct-Nov;33(7):685-93. doi: 10.1097/BPO.0b013e31829e86a9. PMID: 23836071
Martanová H, Krepelová A, Baxová A, Hansíková H, Cánský Z, Kvapil M, Gregor V, Magner M, Zeman J
Prague Med Rep 2007;108(3):263-9. PMID: 18399064
Rakheja D, Read CP, Hull D, Boriack RL, Timmons CF
Pediatr Dev Pathol 2007 Mar-Apr;10(2):142-8. doi: 10.2350/06-06-0111.1. PMID: 17378690
Umranikar S, Glanc P, Unger S, Keating S, Fong K, Trevors CD, Myles-Reid D, Chitayat D
Prenat Diagn 2006 Dec;26(13):1235-40. doi: 10.1002/pd.1594. PMID: 17086568

Clinical prediction guides

Barboza-Cerda MC, Wong LJ, Martínez-de-Villarreal LE, Zhang VW, Déctor MA
Am J Med Genet A 2014 Jul;164A(7):1642-7. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36508. [Epub ahead of print] PMID: 24700572
Morice-Picard F, Kostrzewa E, Wolf C, Benlian P, Taïeb A, Lacombe D
Arch Dermatol 2011 Sep;147(9):1073-6. doi: 10.1001/archdermatol.2011.230. PMID: 21931045
Pazzaglia UE, Zarattini G, Donzelli C, Benetti A, Bondioni MP, Groli C
Fetal Pediatr Pathol 2008;27(2):71-81. doi: 10.1080/15513810802077487. PMID: 18568995
Al-Gazali LI, Bakir M, Hamid Z, Varady E, Varghes M, Haas D, Bener A, Padmanabhan R, Abdulrrazzaq YM, Dawadu A
Birth Defects Res A Clin Mol Teratol 2003 Feb;67(2):125-32. doi: 10.1002/bdra.10009. PMID: 12769508
Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R
Spine (Phila Pa 1976) 2002 Sep 15;27(18):1995-2002. PMID: 12634559

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