Hypertrichosis cubiti - short stature

General Information (adopted from Orphanet):

Synonyms, Signs: HYPERTRICHOSIS CUBITI
Hairy elbows
MacDermot-Patton-Williams syndrome
Number of Symptoms 25
OrphanetNr: 2220
OMIM Id: 139600
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 28 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Hypertrichosis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0011331) Hemifacial atrophy Frequent [Orphanet] 79 / 7739
2
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
3
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
4
 (HPO:0000348) High forehead Occasional [Orphanet] 157 / 7739
5
 (HPO:0000426) Prominent nasal bridge Occasional [Orphanet] 121 / 7739
6
 (HPO:0000271) Abnormality of the face Occasional [Orphanet] 108 / 7739
7
 (HPO:0000606) Abnormality of the periorbital region Occasional [Orphanet] 96 / 7739
8
 (HPO:0000574) Thick eyebrow Occasional [Orphanet] 96 / 7739
9
 (HPO:0000311) Round face Frequent [Orphanet] 104 / 7739
10
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
11
 (HPO:0000464) Abnormality of the neck Occasional [Orphanet] 31 / 7739
12
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
13
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
14
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
15
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
16
 (HPO:0009811) Abnormality of the elbow Very frequent [Orphanet] 30 / 7739
17
 (HPO:0002750) Delayed skeletal maturation Occasional [Orphanet] 250 / 7739
18
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
19
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
20
 (HPO:0004780) Elbow hypertrichosis 1 / 7739
21
 (HPO:0011362) Abnormal hair quantity Very frequent [Orphanet] 92 / 7739
22
 (HPO:0010720) Abnormal hair pattern Very frequent [Orphanet] 14 / 7739
23
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
24
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
25
 (OMIM) Hypertrichosis limited to elbows 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hairy elbows is a rare form of localized hypertrichosis. The lanugo type of hair usually appears in infancy, becomes coarser during early childhood, and regresses at adolescence (summary by Visser et al., 2002).
Clinical Description OMIM The 2 Amish sibs first reported by Beighton (1970) were thought to be heterozygous for the Weill-Marchesani syndrome. Both were short of stature and had long coarse hair involving the lower third of the upper arm and the ...