Synonym(s): - Moniliform hair syndrome
Classification (Orphanet): - Rare genetic disease - Rare skin disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		External references: 1 OMIM reference - See 1 MeSH reference: D056734
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
DSG4	Q86SJ6	607892
KRT81	Q14533	602153
KRT83	P78385	602765
KRT86	O43790	601928

- Alopecia
- Anomalies of eyelids, eyelashes and lacrimal system
- Autosomal dominant inheritance
- Brittle hair / distrix / trichorrhexis
- Eyebrows anomalies
- Fine hair
- Follicular / erythematous / edematous papules / milium
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Nails anomalies
- slow growth of the hair

- Anomalies of teeth and dentition

- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Autosomal recessive inheritance
- Cataract / lens opacification
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Psychosis / schizophrenia / maniac disorder
- Seizures / epilepsy / absences / spasms / status epilepticus