Upper limb mesomelic dysplasia

MedGen UID:: 1811806
•Concept ID:: C5574958
•: Disease or Syndrome

Synonym:	Fryns Hofkens Fabry syndrome
SNOMED CT:	Mesomelic dysplasia of upper limb (1010609002)

Monarch Initiative:	MONDO:0008620
OMIM®:	191440
Orphanet:	ORPHA2497

Definition

This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity. [from ORDO]

Clinical features

From HPO

Ulnar deviation of the hand

MedGen UID:: 66031
•Concept ID:: C0241521
•: Finding

Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger).

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Hypoplasia of the radius

MedGen UID:: 672334
•Concept ID:: C0685381
•: Congenital Abnormality

Underdevelopment of the radius.

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Distal ulnar hypoplasia

MedGen UID:: 371495
•Concept ID:: C1833145
•: Finding

Underdevelopment of the distal portion of the ulna.

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Radial bowing

MedGen UID:: 347136
•Concept ID:: C1859399
•: Anatomical Abnormality

A bending or abnormal curvature of the radius.

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Hypoplasia of the ulna

MedGen UID:: 395934
•Concept ID:: C1860614
•: Congenital Abnormality

Underdevelopment of the ulna.

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Mesomelic arm shortening

MedGen UID:: 350587
•Concept ID:: C1862087
•: Finding

Shortening of the middle parts of the arm in relation to the upper and terminal segments.

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Radial dysplasia

MedGen UID:: 870597
•Concept ID:: C4025046
•: Anatomical Abnormality

Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia.

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