Conditions / Syndrome
Lenz-Majewski hyperostotic dwarfism
info · Syndrome
A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1.
Signs and symptoms
- Proximal finger symphalangism
- Broad clavicle
- Prominent forehead
- Hypertelorism
- Intellectual disability
- Delayed skeletal maturation
- Joint hypermobility
- Cutaneous finger syndactyly
- Macrotia
- Broad ribs
Also known as: Lenz-Majewski syndrome