Conditions / Syndrome
linear skin defects with multiple congenital anomalies 1
info · Syndrome
A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in the HCCS gene on chromo
A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in the HCCS gene on chromosome Xp22.2.
Signs and symptoms
- Asymmetric, linear skin defects
- Microphthalmia
- Absent septum pellucidum
- Anal atresia
- Seizure
- Pigmentary retinopathy
- Chordee
- Histiocytoid cardiomyopathy
- Arrhythmia
- Ventricular septal defect
Also known as: MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defect syndrome; microphthalmia-dermal aplasia-sclerocornea syndrome; syndromic microphthalmia 7