Rhizomelic syndrome, Urbach type

MedGen UID:: 376574
•Concept ID:: C1849382
•: Disease or Syndrome

Synonyms:	Familial rhizomelic dysplasia; Rhizomelic syndrome

Monarch Initiative:	MONDO:0009996
OMIM®:	268250
Orphanet:	ORPHA3098

Definition

Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies. [from ORDO]

Clinical features

From HPO

Bifid distal phalanx of the thumb

MedGen UID:: 348557
•Concept ID:: C1860162
•: Congenital Abnormality

Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones.

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Rhizomelia

MedGen UID:: 357122
•Concept ID:: C1866730
•: Congenital Abnormality

Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).

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Complete duplication of thumb phalanx

MedGen UID:: 767638
•Concept ID:: C3554724
•: Finding

A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.

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Pulmonic stenosis

MedGen UID:: 408291
•Concept ID:: C1956257
•: Disease or Syndrome

A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).

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Short stature

MedGen UID:: 87607
•Concept ID:: C0349588
•: Finding

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

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Hip dislocation