Microbrachycephaly-ptosis-cleft lip syndrome

Orpha code: 2511OMIM code: 268850

Definition

Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.

Disease data
Classification

Malformation syndrome

Synonyms
Richieri Costa-Guion Almeida-Ramos syndrome
Zespół Richieri Costa, Guion Almeida i Ramosa
ORPHA code
2511
OMIM code
268850
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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