congenital hypotrichosis with juvenile macular dystrophy
Findings
No curated finding names congenital hypotrichosis with juvenile macular dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.
Definition from the Mondo Disease Ontology (MONDO:0011107), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
32 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent sebaceous glandsHPOHP:0410400
- 1 of 1 reported patient
- Choriocapillaris atrophyHPOHP:0030491
- 1 of 1 reported patient
- Epidermoid cystHPOHP:0200040
- 1 of 1 reported patient
- Follicular hyperkeratosisHPOHP:0007502
- 1 of 1 reported patient
- Macular atrophyHPOHP:0007401
- 1 of 1 reported patient
- Macular degenerationHPOHP:0000608
- 11 of 11 reported patients · Juvenile onset
- Very frequent (80% to 99% of cases)
- Macular dystrophy
Show the remaining 20
- Sparse scalp hairHPOHP:0002209
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Subretinal depositsHPOHP:0031528
- 1 of 1 reported patient
- Abnormal macular pigmentationHPOHP:0008002
- Very frequent (80% to 99% of cases)
- BlindnessHPOHP:0000618
- Adult onset
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Brittle hairHPOHP:0002299
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CDH3HGNC:1762
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · G2P · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: congenital hypotrichosis with juvenile macular dystrophy
- Also called
- HJMDhypotrichosis with cone-rod dystrophyhypotrichosis with juvenile macular dystrophy