Seckel syndrome 7
Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.
MONDO:0019342
Seckel syndrome
is_a
NIN Seckel syndrome
exact
SCKL7
exact
Seckel syndrome 7
exact
Seckel syndrome caused by mutation in NIN
exact
Seckel syndrome type 7
exact
microcephalic primordial dwarfism, Dauber type
exact