IEMbase 0514: EBP-related chondrodysplasia punctata 2, recessive
Scope
| Field | Value |
|---|---|
| IEMbase ID | 514 |
| Nosology | 14.7.1.02 |
| Gene | EBP |
| External IDs | OMIM:302960; ORPHA:35173 |
| Generated mapping | UNMAPPED; best candidate Rhizomelic_Chondrodysplasia_Punctata_Type_1.yaml |
| Candidate DisMech targets | No exact local target found |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as recessive EBP-related chondrodysplasia punctata 2, with alternate labels Conradi-Hunermann syndrome, MEND syndrome, and CDPX2. No treatments are listed.
The biochemical rows include increased plasma 8(9)-cholestenol and 8-dehydrocholesterol. Clinical rows include chondrodysplasia punctata, cataract, cleft palate, developmental delay, hydrocephalus, hypoplastic nails, hypotonia, ichthyosis, macular hypoplasia, micrognathia, midface and nasal hypoplasia, polydactyly, ptosis, seizures, stenotic canals, toe syndactyly, cryptorchidism, hypospadias, and ventricular septal defect. Clinical-characteristic rows include corpus callosum agenesis or hypogenesis, alopecia, Dandy-Walker malformation, and microcephaly.
DisMech phenotype coverage
No valid local EBP/MEND target was found. The generated best candidate,
Rhizomelic_Chondrodysplasia_Punctata_Type_1.yaml, is a PEX7-related selective
peroxisomal PTS2-import and plasmalogen/phytanic-acid disorder, not an EBP
sterol-isomerase disorder. It shares chondrodysplasia punctata and cataract
vocabulary but not the causal gene, sterol biomarkers, or MEND/CDPX2 mechanism.
The earlier EBP/CDPX2 IEMbase note also resolved as a local gap. This record appears to represent the recessive/MEND branch with prominent CNS, developmental, genital, cardiac, and craniofacial prompts.
Concordance and completeness
Judgement: true local disease gap; generated RCDP1 candidate is false.
IEMbase gives a specific EBP sterol-biosynthesis profile with 8(9)-cholestenol/8-dehydrocholesterol accumulation and a syndromic skin-skeletal-CNS phenotype. Local DisMech has related chondrodysplasia punctata coverage, but no exact EBP/MEND or EBP/CDPX2 target.
Curation actions
- Do not map this record to PEX7-related RCDP1.
- Track EBP-related MEND/recessive CDPX2 as a local sterol-biosynthesis skeletal dysplasia gap.
- If a future EBP entry is added, decide whether X-linked dominant CDPX2 and recessive MEND should be subtypes of one EBP spectrum or separate local disease entries.
- Preserve CNS malformation, developmental delay, genital, cardiac, cataract, nail, ichthyosis, and sterol-biomarker prompts.