Microbrachycephaly-ptosis-cleft lip syndrome

Orpha code: 2511OMIM code: 268850

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl