4q25 proximal deletion syndrome

Orpha code: 502437OMIM code:

Definition

A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth, and mild hand deformities, such as bilateral short 5th metacarpals, and short hands.

Disease data
Classification

Malformation syndrome

Synonyms
Proximal del(4)(q25)
del(4)(q25) proksymalna
Monosomia proksymalna 4q25
Proximal monosomy 4q25
ORPHA code
502437
OMIM code
-
ICD10 code
-
ICD11 code
-

No additional description.

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