Conditions / Syndrome

Seckel syndrome 4

info · Syndrome

A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12.

Signs and symptoms

Decreased body weight
Severe short stature
Microcephaly
Underdeveloped nasal alae
High forehead
Intrauterine growth retardation
Retrognathia
Low-set ears
Steep acetabular roof
Severe failure to thrive

Also known as: SCKL4