Cleft lip/palate-deafness-sacral lipoma syndrome

Orpha code: 2003OMIM code:

Definition

Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.

Disease data
Classification

Malformation syndrome

Synonyms
Cleft lip/palate-hearing loss-sacral lipoma syndrome
Zespół Lowry'ego i Yonga
Lowry-Yong syndrome
ORPHA code
2003
OMIM code
-
ICD10 code
Q87.8
ICD11 code
LD2H.Y

No additional description.

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