Ulbright-Hodes syndrome

Orpha code: 3404OMIM code: 266910

Definition

Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.

Disease data
Classification

Malformation syndrome

Synonyms
Renal dysplasia-limb defects syndrome
Dysplazja nerek - mezomelia - zrost kości promieniowej i ramiennej
Dysplazja nerek - wady kończyn
Renal dysplasia-mesomelia-radiohumeral fusion syndrome
ORPHA code
3404
OMIM code
266910
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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