Acro-renal-mandibular syndrome

Orpha code: 958OMIM code: 200980

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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