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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2888
This syndrome is characterised by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal.
It has been described in two half brothers born to the same mother.
Transmission appears to be X-linked recessive.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
|Redundant neck skin|
|Expanded phalanges with widened medullary cavities|
|Triangular epiphysis of the proximal phalanx of the 2nd finger|
|Clinodactyly of the 5th finger|
|Easily subluxated first metacarpophalangeal joints|
|Short distal phalanx of finger|
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