Conditions / Syndrome
nonphotosensitive trichothiodystrophy 8
info · Syndrome
A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in compound heterozygous mutation in the AARS1 ge
A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in compound heterozygous mutation in the AARS1 gene on chromosome 16q22.
Signs and symptoms
- Woolly hair
- Global developmental delay
- Long philtrum
- Delayed CNS myelination
- Sparse eyebrow
- Sparse hair
- Craniofacial dystonia
- Esodeviation
- Thin upper lip vermilion
- Trichorrhexis nodosa
Also known as: TTD8