Conditions / Syndrome
KINSSHIP syndrome
info · Syndrome
A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in the AFF3 g
A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in the AFF3 gene on chromosome 2q11.2.
Signs and symptoms
- Intellectual disability
- Global developmental delay
- Brain atrophy
- Ventriculomegaly
- Failure to thrive
- Epileptic encephalopathy
- Horseshoe kidney
- Fibular hypoplasia
- Hypertrichosis
- Mesomelia
Also known as: AFF3-related mesomelic dysplasia; KINS; Steichen-Gersdorf type mesomelic dysplasia