Table 1 Comparison of clinical data of missense variants in NSDHL gene
From: Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report
Clinical features | Other missense variants in NSDHL gene [8] | Proband |
|---|---|---|
Ipsilateral CHILD nevus | both diffuse and wide spread involvement of trunk, thigh and groin area | continuous involvement of neck trunk, upper arm, hand including web spaces groin, upper thigh and right foot. |
Laterality | ipsilateral, contralateral lesions and bilateral lesions are also reported [9] | ipsilateral lesions confined to the right side with strict midline demarcation |
Ipsilateral extracutaneous defects | hypoplasia of arm, leg, foot, pelvis and skull | hypoplasia of upper limb with simple syndactyly of all fingers with nail changes of the right hand. Aplastic femoral head, length of right leg shorter than the left leg and normal foot. |
Visceral abnormalities | ipsilateral visceral abnormalities | absent right (ipsilateral) kidney. ultra sound scan of brain- asymmetrical ventriculomegaly (L > R) |
Hearing defects and vocal cord involvement | observed in some cases | not observed |