Monilethrix

General Information (adopted from Orphanet):

Synonyms, Signs: Moniliform hair syndrome
Number of Symptoms 26
OrphanetNr: 573
OMIM Id: 158000
ICD-10: Q84.1
UMLs: C0546966
MeSH: D056734
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Isolated hair shaft abnormality
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000534) Abnormality of the eyebrow Very frequent [Orphanet] 39 / 7739
2
 (HPO:0000606) Abnormality of the periorbital region Very frequent [Orphanet] 96 / 7739
3
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
4
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
5
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
6
 (HPO:0000708) Behavioral abnormality Occasional [Orphanet] 212 / 7739
7
 (HPO:0002299) Brittle hair Very frequent [Orphanet] 52 / 7739
8
 (HPO:0002164) Nail dysplasia 82 / 7739
9
 (HPO:0002217) Slow-growing hair Very frequent [Orphanet] 22 / 7739
10
 (HPO:0002213) Fine hair Very frequent [Orphanet] 77 / 7739
11
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
12
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
13
 (HPO:0001597) Abnormality of the nail Very frequent [Orphanet] 115 / 7739
14
 (HPO:0007468) Perifollicular hyperkeratosis 4 / 7739
15
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
16
 (HPO:0008404) Nail dystrophy 89 / 7739
17
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
18
 (OMIM) Short hair 2 / 7739
19
 (OMIM) Beaded hair on microscopy 1 / 7739
20
 (MedDRA:10066295) Keratosis pilaris 11 / 7739
21
 (HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739
22
 (HPO:0003593) Infantile onset 249 / 7739
23
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
24
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
25
 (HPO:0003828) Variable expressivity 130 / 7739
26
 (MedDRA:10023369) Keratosis follicular 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Individuals with monilethrix have normal hair at birth, but within the first few months of life develop fragile, brittle hair that tends to fracture and produce varying degrees of dystrophic alopecia. In the mildest forms, only the occipital ...
Clinical Description OMIM Salamon and Schnyder (1962) reviewed the clinical findings in 4 previously reported Swiss families segregating autosomal dominant monilethrix.

Hypotrichosis may be the presenting manifestation. The degree of hypotrichosis is variable from patient to patient and from ...
Molecular genetics OMIM Winter et al. (1997) identified a glu413-to-lys mutation (E413K; 601928.0001) in the type II hair cortex keratin gene they called HB6 in a 4-generation British family with monilethrix previously linked to 12q13, as well as in 3 unrelated ...