Humerofemoral hypoplasia with radiotibial ray deficiency(HHRRD)

MedGen UID:: 1648393
•Concept ID:: C4747940
•: Congenital Abnormality

Synonyms:	HFHRTRD; HHRRD; HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY

Gene (location): Gene(s) directly associated with this condition or phenotype.	RSPO2 (8q23.1)

Monarch Initiative:	MONDO:0060733
OMIM®:	618022

Definition

Humerofemoral hypoplasia with radiotibial ray deficiency (HHRRD) is a severe dysostosis characterized by reduction of all 4 limbs as well as hypoplasia of the upper limb girdle and pelvis. Rudimentary finger- or toe-like appendages may be present (Szenker-Ravi et al., 2018). [from OMIM]

Clinical features

From HPO

Bilateral talipes equinovarus

MedGen UID:: 332956
•Concept ID:: C1837835
•: Congenital Abnormality

Bilateral clubfoot deformity.

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Bowed humerus

MedGen UID:: 395269
•Concept ID:: C1859460
•: Finding

A bending or abnormal curvature of the humerus.

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Absent thumb

MedGen UID:: 480441
•Concept ID:: C3278811
•: Finding

Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.

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Retrognathia

MedGen UID:: 19766
•Concept ID:: C0035353
•: Congenital Abnormality

An abnormality in which the mandible is mislocalised posteriorly.

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Congenital diaphragmatic hernia

MedGen UID:: 68625
•Concept ID:: C0235833
•: Congenital Abnormality

The presence of a hernia of the diaphragm present at birth.

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Elbow flexion contracture

MedGen UID:: 98367
•Concept ID:: C0409338
•: Acquired Abnormality

An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.

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Short clavicles