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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1277
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
80%-99% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
|Convex nasal ridge|
|Abnormality of the shoulder|
|Plantar crease between first and second toes|
|Type II diabetes mellitus|
|High urinary gonadotropin level|
|Abnormality of the optic nerve|
|Peg-shaped maxillary lateral incisors|
|Distal upper limb muscle weakness|
|Abnormality of fibula morphology|
|Abnormal mitral valve morphology|
|Abnormal palate morphology|
|Hernia of the abdominal wall|
|Reduced number of teeth|
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