IEMbase 0194: NSDHL-related CHILD syndrome
Scope
| Field | Value |
|---|---|
| IEMbase ID | 194 |
| Nosology | 14.7.08.01 |
| Gene | NSDHL |
| External IDs | OMIM:308050; ORPHA:139 |
| Generated mapping | UNMAPPED; best candidate Autosomal_Recessive_Congenital_Ichthyosis.yaml |
| Candidate DisMech targets | None valid; ichthyosis candidate is partial skin overlap only |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as NSDHL-related CHILD syndrome, with alternate labels congenital hemidysplasia with ichthyosiform erythroderma and limb defects, and CHILD. Treatability is marked unknown.
The biochemical rows include increased 4,4-dimethyl sterols, 4-carboxymethyl sterols, and 4-methyl sterols in general and lymphoblast compartments. Characteristic clinical rows include minor contralateral bone abnormalities, skin abnormalities, and unilateral limb defects. Additional rows include absent or hypoplastic long bones and phalanges, alopecia, dystrophic nails, erythema, hematuria, unilateral hypoplasia, ichthyosiform skin lesions demarcated at the midline, punctate calcification of nonskeletal and skeletal cartilage, renal agenesis or hypoplasia, and vertebral anomalies. No treatment rows are listed.
DisMech phenotype coverage
No valid local CHILD syndrome target was found. The generated best candidate,
Autosomal_Recessive_Congenital_Ichthyosis.yaml, is a nonsyndromic ARCI entry
and does not model X-linked NSDHL sterol-biosynthesis disease, lateralized
ichthyosiform lesions, unilateral limb defects, or renal/skeletal involvement.
Concordance and completeness
Judgement: true local disease gap; ichthyosis candidate is not equivalent.
IEMbase provides the expected NSDHL/CHILD syndrome pattern: abnormal sterol intermediates, midline-demarcated skin lesions, unilateral limb reduction or hypoplasia, cartilage calcification, renal defects, and vertebral anomalies. Local DisMech ichthyosis coverage is useful only as broad skin-disease context, not a valid disease mapping.
Curation actions
- Do not map this record to autosomal recessive congenital ichthyosis.
- Add a future NSDHL/CHILD syndrome entry if sterol-biosynthesis skin/skeletal disorders are in scope.
- Seed that entry with methyl/dimethyl/carboxymethyl sterol accumulation, unilateral limb defects, midline-demarcated ichthyosiform lesions, cartilage calcification, renal anomalies, vertebral anomalies, alopecia, and nail dystrophy.