Acro-renal-mandibular syndrome

Orpha code: 958OMIM code: 200980

Definition

A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.

Disease data
Classification

Malformation syndrome

Synonyms
Split hand/split foot-mandibular hypoplasia syndrome
Rozszczep dłoni/rozszczep stopy - hipoplazja żuchwy
ORPHA code
958
OMIM code
200980
ICD10 code
Q87.8
ICD11 code
LD2F.1Y

No additional description.

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