Seckel syndrome 7
Seckel syndrome 7
Definition
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.
Also known as microcephalic primordial dwarfism, Dauber type, NIN Seckel syndrome, SCKL7, Seckel syndrome 7, Seckel syndrome caused by mutation in NIN, Seckel syndrome type 7 — per MONDO