Achard syndrome

MedGen UID:: 272277
•Concept ID:: C1332135
•: Disease or Syndrome

Synonym:	Arachnodactyly, receding lower jaw and joint laxity of hands/feet

Monarch Initiative:	MONDO:0007036
OMIM®:	100700

Definition

A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet. [from NCI]

Clinical features

From HPO

Arachnodactyly

MedGen UID:: 2047
•Concept ID:: C0003706
•: Congenital Abnormality

Abnormally long and slender fingers ("spider fingers").

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Micrognathia

MedGen UID:: 44428
•Concept ID:: C0025990
•: Congenital Abnormality

Developmental hypoplasia of the mandible.

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Brachycephaly

MedGen UID:: 113165
•Concept ID:: C0221356
•: Congenital Abnormality

An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.

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Broad skull