Craniosynostosis, Adelaide type(CRSA)

MedGen UID:: 371600
•Concept ID:: C1833578
•: Disease or Syndrome

Synonym:	CRSA

Monarch Initiative:	MONDO:0010903
OMIM®:	600593

Clinical features

From HPO

Hallux valgus

MedGen UID:: 5416
•Concept ID:: C0018536
•: Anatomical Abnormality

Lateral deviation of the great toe (i.e., in the direction of the little toe).

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Shortening of all middle phalanges of the fingers

MedGen UID:: 347331
•Concept ID:: C1856912
•: Finding

Short, hypoplastic middle phalanx of finger, affecting all fingers.

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Shortening of all distal phalanges of the fingers

MedGen UID:: 867248
•Concept ID:: C4021608
•: Finding

Hypoplasia of all of the distal phalanx of finger.

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Carpal bone malsegmentation

MedGen UID:: 870683
•Concept ID:: C4025137
•: Anatomical Abnormality

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Craniosynostosis syndrome

MedGen UID:: 1163
•Concept ID:: C0010278
•: Disease or Syndrome

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.

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Cone-shaped epiphyses of the phalanges of the hand

MedGen UID:: 347156
•Concept ID:: C1859480
•: Finding

A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.

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Cone-shaped epiphyses of the toes