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Shprintzen-Goldberg syndrome(SGS)

MedGen UID:
231160
Concept ID:
C1321551
Congenital Abnormality; Disease or Syndrome
Synonyms: Craniosynostosis with arachnodactyly and abdominal hernias; Marfanoid craniosynostosis syndrome; Marfanoid disorder with craniosynostosis type 1; SGS; Shprintzen-Goldberg craniosynostosis syndrome; Shprintzen-Goldberg marfanoid syndrome
Modes of inheritance:
Sporadic
MedGen UID:
342827
Concept ID:
C1853237
Finding
Sources: HPO, OMIM
Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.
Autosomal dominant inheritance
MedGen UID:
892334
Concept ID:
CN000007
Functional Concept
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Sporadic (HPO, OMIM)
 
Gene (location): SKI (1p36.33-36.32)
OMIM®: 182212

Disease characteristics

Excerpted from the GeneReview: Shprintzen-Goldberg Syndrome
Shprintzen-Goldberg syndrome (SGS) is characterized by: craniosynostosis of the coronal, sagittal, or lambdoid sutures; dolichocephaly; distinctive craniofacial features; skeletal changes (dolichostenomelia, arachnodactyly, camptodactyly, pes planus, pectus excavatum or carinatum, scoliosis, joint hypermobility or contractures and C1/C2 spine malformation); neurologic abnormalities; intellectual disability; and brain anomalies (hydrocephalus, dilatation of the lateral ventricles, and Chiari 1 malformation). Cardiovascular anomalies may include mitral valve prolapse, mitral regurgitation/incompetence, aortic regurgitation, and aortic root dilatation. Minimal subcutaneous fat, abdominal wall defects, myopia, and cryptorchidism in males are also characteristic findings. [from GeneReviews]
Authors:
Marie T Greally   view full author information

Additional descriptions

From OMIM
Shprintzen-Goldberg syndrome is a disorder comprising craniosynostosis, a marfanoid habitus, and skeletal, neurologic, cardiovascular, and connective tissue anomalies. There appears to be a characteristic facies involving hypertelorism, downslanting palpebral fissures, high-arched palate, micrognathia, and low-set posteriorly rotated ears. Other commonly reported manifestations include hypotonia, developmental delay, and inguinal or umbilical hernia; the most common skeletal manifestations are arachnodactyly, pectus deformity, camptodactyly, scoliosis, and joint hypermobility (summary by Robinson et al., 2005). There is considerable phenotypic overlap between SGS and Marfan syndrome (MFS; 154700) and Loeys-Dietz syndrome (LDS; see 609192): SGS includes virtually all of the craniofacial, skeletal, skin, and cardiovascular manifestations of MFS and LDS, with the additional findings of mental retardation and severe skeletal muscle hypotonia (summary by Doyle et al., 2012).  http://www.omim.org/entry/182212
From GHR
Shprintzen-Goldberg syndrome is a disorder that affects many parts of the body. Affected individuals have a combination of distinctive facial features and skeletal and neurological abnormalities.A common feature in people with Shprintzen-Goldberg syndrome is craniosynostosis, which is the premature fusion of certain skull bones. This early fusion prevents the skull from growing normally. Affected individuals can also have distinctive facial features, including a long, narrow head; widely spaced eyes (hypertelorism); protruding eyes (exophthalmos); outside corners of the eyes that point downward (downslanting palpebral fissures); a high, narrow palate; a small lower jaw (micrognathia); and low-set ears that are rotated backward.People with Shprintzen-Goldberg syndrome are often said to have a marfanoid habitus, because their bodies resemble those of people with a genetic condition called Marfan syndrome. For example, they may have long, slender fingers (arachnodactyly), unusually long limbs, a sunken chest (pectus excavatum) or protruding chest (pectus carinatum), and an abnormal side-to-side curvature of the spine (scoliosis). People with Shprintzen-Goldberg syndrome can have other skeletal abnormalities, such as one or more fingers that are permanently bent (camptodactyly) and an unusually large range of joint movement (hypermobility).People with Shprintzen-Goldberg syndrome often have delayed development and mild to moderate intellectual disability.Other common features of Shprintzen-Goldberg syndrome include heart or brain abnormalities, weak muscle tone (hypotonia) in infancy, and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia).Shprintzen-Goldberg syndrome has signs and symptoms similar to those of Marfan syndrome and another genetic condition called Loeys-Dietz syndrome. However, intellectual disability is more likely to occur in Shprintzen-Goldberg syndrome than in the other two conditions. In addition, heart abnormalities are more common and usually more severe in Marfan syndrome and Loeys-Dietz syndrome.  https://ghr.nlm.nih.gov/condition/shprintzen-goldberg-syndrome

Clinical features

Proptosis
MedGen UID:
41917
Concept ID:
C0015300
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Shallow orbits
MedGen UID:
351328
Concept ID:
C1865244
Finding
Reduced depth of the orbits associated with prominent-appearing ocular globes.
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Ptosis
MedGen UID:
504471
Concept ID:
CN000475
Finding
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).
Arachnodactyly
MedGen UID:
2047
Concept ID:
C0003706
Congenital Abnormality
An abnormal bone development that is characterized by extra long and slender hands and fingers, such that the clenched thumb extends beyond the ulnar side of the hand. Arachnodactyly can include feet and toes. Arachnodactyly has been associated with several gene mutations and syndromes.
Joint contracture of the hand
MedGen UID:
56382
Concept ID:
C0158113
Disease or Syndrome
Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Metatarsus adductus
MedGen UID:
120553
Concept ID:
C0265648
Congenital Abnormality
The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.
Camptodactyly of finger
MedGen UID:
98041
Concept ID:
C0409348
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Genu valgum
MedGen UID:
154364
Concept ID:
C0576093
Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
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.
Dislocated radial head
MedGen UID:
316908
Concept ID:
C1832118
Injury or Poisoning
Metaphyseal widening
MedGen UID:
341364
Concept ID:
C1849039
Finding
A radiologic finding characterized by an increased width of the metaphyseal regions. It is seen in rickets.
Elbow dislocation
MedGen UID:
404765
Concept ID:
C2720437
Injury or Poisoning
Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.
Camptodactyly of toe
MedGen UID:
867404
Concept ID:
C4021774
Anatomical Abnormality
Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.
Abnormality of the metaphyses
MedGen UID:
871326
Concept ID:
C4025814
Anatomical Abnormality
An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
Talipes equinovarus
MedGen UID:
504945
Concept ID:
CN001602
Finding
Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.
Genu recurvatum
MedGen UID:
505362
Concept ID:
CN002543
Finding
An abnormally increased extension of the knee joint, so that the knee can bend backwards.
Orthostatic intolerance
MedGen UID:
7671
Concept ID:
C0026267
Disease or Syndrome
Mitral valve prolapse (MVP) occurs when one of your heart's valves doesn't work properly. The flaps of the valve are floppy and don't close tightly. Most people who have the condition are born with it. It also tends to run in families. Most of the time, MVP doesn't cause any problems. Rarely, blood can leak the wrong way through the floppy valve. This can cause. -Palpitations (feelings that your heart is skipping a beat, fluttering, or beating too hard or too fast). -Shortness of breath. -Cough. -Fatigue, dizziness, or anxiety. -Migraine headaches. -Chest discomfort. Most people who have mitral valve prolapse (MVP) don't need treatment because they don't have symptoms and complications. If you need treatment for MVP, medicines can help relieve symptoms or prevent complications. Very few people will need surgery to repair or replace the mitral valve. MVP puts you at risk for infective endocarditis, a kind of heart infection. To prevent it, doctors used to prescribe antibiotics before dental work or certain surgeries. Now, only people at high risk of endocarditis need the antibiotics. NIH: National Heart, Lung, and Blood Institute.
Aortic dilatation
MedGen UID:
78118
Concept ID:
C0265004
Pathologic Function
Abnormality of the aortic valve
MedGen UID:
488999
Concept ID:
C3164445
Anatomical Abnormality
Any abnormality of the aortic valve.
Abnormality of the mitral valve
MedGen UID:
428274
Concept ID:
CN001486
Finding
An abnormality of the mitral valve.
Gastroesophageal reflux disease
MedGen UID:
6553
Concept ID:
C0017168
Disease or Syndrome
Gastroesophageal reflux (GER) is characterized by the retrograde movement of stomach contents into the esophagus. In its most severe form, GER results in extensive tissue damage caused by acid reflux. In adolescents and adults, and even infrequently in children, chronic GER is associated with the risk of developing Barrett metaplasia (614266), a premalignant lesion of the esophageal mucosa (Hu et al., 2000). In turn, Barrett metaplasia is correlated with the development of adenocarcinoma of the esophagus (see 614266), estimated as the fifth most prevalent neoplasia in the Western world (Lagergren et al., 1999).
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Abdominal wall muscle weakness
MedGen UID:
867169
Concept ID:
C4021527
Finding
Decreased strength of the abdominal musculature.
Aplasia/Hypoplasia of the abdominal wall musculature
MedGen UID:
869482
Concept ID:
C4023909
Finding
Absence or underdevelopment of the abdominal musculature.
Low-set, posteriorly rotated ears
MedGen UID:
387834
Concept ID:
C1857486
Finding
Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358).
Conductive hearing impairment
MedGen UID:
504435
Concept ID:
CN000378
Finding
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
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.
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.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Cognitive delay
MedGen UID:
351243
Concept ID:
C1864897
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
Communicating hydrocephalus
MedGen UID:
504805
Concept ID:
CN001222
Finding
A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space.
Obstructive sleep apnea
MedGen UID:
505381
Concept ID:
CN002595
Finding
A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow.
Arnold-Chiari type I malformation
MedGen UID:
506024
Concept ID:
CN006197
Finding
Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle.
Cognitive impairment
MedGen UID:
451875
Concept ID:
CN117436
Finding
Abnormality in the process of thought including the ability to process information.
Apnea
MedGen UID:
2009
Concept ID:
C0003578
Pathologic Function
Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
Obstructive sleep apnea
MedGen UID:
505381
Concept ID:
CN002595
Finding
A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow.
Gastroesophageal reflux disease
MedGen UID:
6553
Concept ID:
C0017168
Disease or Syndrome
Gastroesophageal reflux (GER) is characterized by the retrograde movement of stomach contents into the esophagus. In its most severe form, GER results in extensive tissue damage caused by acid reflux. In adolescents and adults, and even infrequently in children, chronic GER is associated with the risk of developing Barrett metaplasia (614266), a premalignant lesion of the esophageal mucosa (Hu et al., 2000). In turn, Barrett metaplasia is correlated with the development of adenocarcinoma of the esophagus (see 614266), estimated as the fifth most prevalent neoplasia in the Western world (Lagergren et al., 1999).
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Abdominal wall muscle weakness
MedGen UID:
867169
Concept ID:
C4021527
Finding
Decreased strength of the abdominal musculature.
Aplasia/Hypoplasia of the abdominal wall musculature
MedGen UID:
869482
Concept ID:
C4023909
Finding
Absence or underdevelopment of the abdominal musculature.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
Joint contracture of the hand
MedGen UID:
56382
Concept ID:
C0158113
Disease or Syndrome
Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Camptodactyly of finger
MedGen UID:
98041
Concept ID:
C0409348
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Abdominal wall muscle weakness
MedGen UID:
867169
Concept ID:
C4021527
Finding
Decreased strength of the abdominal musculature.
Camptodactyly of toe
MedGen UID:
867404
Concept ID:
C4021774
Anatomical Abnormality
Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.
Aplasia/Hypoplasia of the abdominal wall musculature
MedGen UID:
869482
Concept ID:
C4023909
Finding
Absence or underdevelopment of the abdominal musculature.
Arachnodactyly
MedGen UID:
2047
Concept ID:
C0003706
Congenital Abnormality
An abnormal bone development that is characterized by extra long and slender hands and fingers, such that the clenched thumb extends beyond the ulnar side of the hand. Arachnodactyly can include feet and toes. Arachnodactyly has been associated with several gene mutations and syndromes.
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value.
Joint contracture of the hand
MedGen UID:
56382
Concept ID:
C0158113
Disease or Syndrome
Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Pectus carinatum
MedGen UID:
57643
Concept ID:
C0158731
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Hypoplasia of the maxilla
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.
Metatarsus adductus
MedGen UID:
120553
Concept ID:
C0265648
Congenital Abnormality
The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.
Supernumerary ribs
MedGen UID:
83380
Concept ID:
C0345397
Congenital Abnormality
The presence of more than 12 rib pairs.
Camptodactyly of finger
MedGen UID:
98041
Concept ID:
C0409348
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Narrow chest
MedGen UID:
96528
Concept ID:
C0426790
Finding
Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.
Lateral clavicle hook
MedGen UID:
98426
Concept ID:
C0426805
Finding
An excessive upward convexity of the lateral clavicle.
Thin ribs
MedGen UID:
98095
Concept ID:
C0426818
Finding
Ribs with a reduced diameter.
Genu valgum
MedGen UID:
154364
Concept ID:
C0576093
Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
Scoliosis
MedGen UID:
195976
Concept ID:
C0700208
Finding
The presence of an abnormal lateral curvature of the spine.
Dislocated radial head
MedGen UID:
316908
Concept ID:
C1832118
Injury or Poisoning
Abnormality of the ribs
MedGen UID:
330763
Concept ID:
C1842083
Anatomical Abnormality
An anomaly of the rib.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The ability of a joint to move beyond its normal range of motion.
Metaphyseal widening
MedGen UID:
341364
Concept ID:
C1849039
Finding
A radiologic finding characterized by an increased width of the metaphyseal regions. It is seen in rickets.
Limitation of joint mobility
MedGen UID:
341696
Concept ID:
C1857108
Finding
A reduction in the freedom of movement of one or more joints.
Hypoplastic mandible condyle
MedGen UID:
347379
Concept ID:
C1857130
Anatomical Abnormality
Developmental hypoplasia of the mandible.
Shallow orbits
MedGen UID:
351328
Concept ID:
C1865244
Finding
Reduced depth of the orbits associated with prominent-appearing ocular globes.
Wide anterior fontanel
MedGen UID:
400926
Concept ID:
C1866134
Finding
Enlargement of the anterior fontanelle with respect to age-dependent norms.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest (\
Reduced bone mineral density
MedGen UID:
393152
Concept ID:
C2674432
Finding
A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.
Elbow dislocation
MedGen UID:
404765
Concept ID:
C2720437
Injury or Poisoning
Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.
Camptodactyly of toe
MedGen UID:
867404
Concept ID:
C4021774
Anatomical Abnormality
Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.
C1-C2 vertebral abnormality
MedGen UID:
870237
Concept ID:
C4024675
Anatomical Abnormality
Any abnormality of the atlas and the axis.
Abnormality of the metaphyses
MedGen UID:
871326
Concept ID:
C4025814
Anatomical Abnormality
An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
Dolichocephaly
MedGen UID:
504413
Concept ID:
CN000254
Finding
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Craniosynostosis
MedGen UID:
504814
Concept ID:
CN001249
Finding
Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
Joint laxity
MedGen UID:
504825
Concept ID:
CN001270
Finding
Lack of stability of a joint.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Genu recurvatum
MedGen UID:
505362
Concept ID:
CN002543
Finding
An abnormally increased extension of the knee joint, so that the knee can bend backwards.
Proptosis
MedGen UID:
41917
Concept ID:
C0015300
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
High forehead
MedGen UID:
65991
Concept ID:
C0239676
Finding
An abnormally increased height of the forehead.
Hypoplasia of the maxilla
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.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Telecanthus
MedGen UID:
140836
Concept ID:
C0423113
Congenital Abnormality
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Narrow palate
MedGen UID:
278045
Concept ID:
C1398312
Anatomical Abnormality
Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Hypoplastic mandible condyle
MedGen UID:
347379
Concept ID:
C1857130
Anatomical Abnormality
Developmental hypoplasia of the mandible.
Shallow orbits
MedGen UID:
351328
Concept ID:
C1865244
Finding
Reduced depth of the orbits associated with prominent-appearing ocular globes.
Wide anterior fontanel
MedGen UID:
400926
Concept ID:
C1866134
Finding
Enlargement of the anterior fontanelle with respect to age-dependent norms.
High palate
MedGen UID:
504397
Concept ID:
CN000211
Finding
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Dolichocephaly
MedGen UID:
504413
Concept ID:
CN000254
Finding
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Craniosynostosis
MedGen UID:
504814
Concept ID:
CN001249
Finding
Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Joint contracture of the hand
MedGen UID:
56382
Concept ID:
C0158113
Disease or Syndrome
Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Camptodactyly of finger
MedGen UID:
98041
Concept ID:
C0409348
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Minimal subcutaneous fat
MedGen UID:
395263
Concept ID:
C1859442
Finding
Camptodactyly of toe
MedGen UID:
867404
Concept ID:
C4021774
Anatomical Abnormality
Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.
Hyperextensible skin
MedGen UID:
66023
Concept ID:
C0241074
Finding
A condition in which the skin can be stretched beyond normal, and then returns to its initial position.
Minimal subcutaneous fat
MedGen UID:
395263
Concept ID:
C1859442
Finding

Recent clinical studies

Etiology

Cook JR, Carta L, Galatioto J, Ramirez F
Clin Genet 2015;87(1):11-20. Epub 2014 Jul 10 doi: 10.1111/cge.12436. PMID: 24867163
Pauliks LB, Chan KC, Lorts A, Elias ER, Cayre RO, Valdes-Cruz LM
J Ultrasound Med 2005 May;24(5):703-6. PMID: 15840802
Topouzelis N, Markovitsi E, Antoniades K
Cleft Palate Craniofac J 2003 Jul;40(4):433-6. doi: 10.1597/1545-1569(2003)040<0433:SSCR>2.0.CO;2. PMID: 12846610
Stoll C
Clin Dysmorphol 2002 Jan;11(1):1-7. PMID: 11822698
Greally MT, Carey JC, Milewicz DM, Hudgins L, Goldberg RB, Shprintzen RJ, Cousineau AJ, Smith WL Jr, Judisch GF, Hanson JW
Am J Med Genet 1998 Mar 19;76(3):202-12. PMID: 9508238

Diagnosis

Schepers D, Doyle AJ, Oswald G, Sparks E, Myers L, Willems PJ, Mansour S, Simpson MA, Frysira H, Maat-Kievit A, Van Minkelen R, Hoogeboom JM, Mortier GR, Titheradge H, Brueton L, Starr L, Stark Z, Ockeloen C, Lourenco CM, Blair E, Hobson E, Hurst J, Maystadt I, Destrée A, Girisha KM, Miller M, Dietz HC, Loeys B, Van Laer L
Eur J Hum Genet 2015 Feb;23(2):224-8. Epub 2014 Apr 16 doi: 10.1038/ejhg.2014.61. PMID: 24736733Free PMC Article
Elmistekawy E, Hudson CC, Williams A, Mesana T
Asian Cardiovasc Thorac Ann 2014 Sep;22(7):842-5. Epub 2013 Oct 9 doi: 10.1177/0218492313485070. PMID: 24887819
Au PY, Racher HE, Graham JM Jr, Kramer N, Lowry RB, Parboosingh JS, Innes AM; FORGE Canada Consortium.
Am J Med Genet A 2014 Mar;164A(3):676-84. Epub 2013 Dec 19 doi: 10.1002/ajmg.a.36340. PMID: 24357594
Levy B, Tegay D, Papenhausen P, Tepperberg J, Nahum O, Tsuchida T, Pletcher BA, Ala-Kokko L, Baker S, Frederick B, Hirschhorn K, Warburton P, Shanske A
Genet Med 2012 Sep;14(9):811-8. Epub 2012 May 31 doi: 10.1038/gim.2012.54. PMID: 22653535
Robinson PN, Neumann LM, Demuth S, Enders H, Jung U, König R, Mitulla B, Müller D, Muschke P, Pfeiffer L, Prager B, Somer M, Tinschert S
Am J Med Genet A 2005 Jun 15;135(3):251-62. doi: 10.1002/ajmg.a.30431. PMID: 15884042

Therapy

Cannaerts E, van de Beek G, Verstraeten A, Van Laer L, Loeys B
Eur J Med Genet 2015 Dec;58(12):695-703. Epub 2015 Oct 24 doi: 10.1016/j.ejmg.2015.10.010. PMID: 26598797
Elmistekawy E, Hudson CC, Williams A, Mesana T
Asian Cardiovasc Thorac Ann 2014 Sep;22(7):842-5. Epub 2013 Oct 9 doi: 10.1177/0218492313485070. PMID: 24887819

Prognosis

Elmistekawy E, Hudson CC, Williams A, Mesana T
Asian Cardiovasc Thorac Ann 2014 Sep;22(7):842-5. Epub 2013 Oct 9 doi: 10.1177/0218492313485070. PMID: 24887819
Van Lierde KM, Mortier G, Loeys B, Baudonck N, De Ley S, Marks LA, Van Borsel J
Int J Pediatr Otorhinolaryngol 2007 May;71(5):721-8. Epub 2007 Feb 14 doi: 10.1016/j.ijporl.2007.01.009. PMID: 17303258
Pauliks LB, Chan KC, Lorts A, Elias ER, Cayre RO, Valdes-Cruz LM
J Ultrasound Med 2005 May;24(5):703-6. PMID: 15840802
Stoll C
Clin Dysmorphol 2002 Jan;11(1):1-7. PMID: 11822698

Clinical prediction guides

Stheneur C, Collod-Béroud G, Faivre L, Gouya L, Sultan G, Le Parc JM, Moura B, Attias D, Muti C, Sznajder M, Claustres M, Junien C, Baumann C, Cormier-Daire V, Rio M, Lyonnet S, Plauchu H, Lacombe D, Chevallier B, Jondeau G, Boileau C
Hum Mutat 2008 Nov;29(11):E284-95. doi: 10.1002/humu.20871. PMID: 18781618
Akutsu K, Morisaki H, Takeshita S, Sakamoto S, Tamori Y, Yoshimuta T, Yokoyama N, Nonogi H, Ogino H, Morisaki T
Circ J 2007 Aug;71(8):1305-9. PMID: 17652900

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