Hypertrichotic osteochondrodysplasia, Cantu type

General Information (adopted from Orphanet):

Synonyms, Signs: HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA
Number of Symptoms 70
OrphanetNr: 1517
OMIM Id: 239850
ICD-10: Q87.3
UMLs: C0795905
MeSH: C535572
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 40 cases [Orphanet]
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Dysostosis with predominant craniofacial involvement
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0001520) Large for gestational age 34 / 7739
2
 (HPO:0001640) Cardiomegaly Very frequent [Orphanet] 81 / 7739
3
 (HPO:0005129) Congenital hypertrophy of left ventricle 1 / 7739
4
 (HPO:0001654) Abnormality of the heart valves Occasional [Orphanet] 49 / 7739
5
 (HPO:0001647) Bicuspid aortic valve 34 / 7739
6
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
7
 (HPO:0001698) Pericardial effusion 20 / 7739
8
 (HPO:0001643) Patent ductus arteriosus Frequent [Orphanet] 228 / 7739
9
 (HPO:0001004) Lymphedema 62 / 7739
10
 (HPO:0001256) Intellectual disability, mild 141 / 7739
11
 (HPO:0009882) Short distal phalanx of finger Frequent [Orphanet] 125 / 7739
12
 (HPO:0010068) Broad first metatarsal 3 / 7739
13
 (HPO:0010055) Broad hallux Frequent [Orphanet] 56 / 7739
14
 (HPO:0010109) Short hallux Frequent [Orphanet] 27 / 7739
15
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
16
 (HPO:0002673) Coxa valga 57 / 7739
17
 (HPO:0004975) Erlenmeyer flask deformity of the femurs 8 / 7739
18
 (HPO:0001869) Deep plantar creases Frequent [Orphanet] 14 / 7739
19
 (HPO:0008822) Hypoplastic ischiopubic rami 1 / 7739
20
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
21
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
22
 (HPO:0003016) Metaphyseal widening 41 / 7739
23
 (HPO:0002690) Large sella turcica 12 / 7739
24
 (HPO:0005445) Widened posterior fossa 1 / 7739
25
 (HPO:0000294) Low anterior hairline Very frequent [Orphanet] 52 / 7739
26
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
27
 (HPO:0011220) Prominent forehead 137 / 7739
28
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
29
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
30
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
31
 (HPO:0004634) Cuboid-shaped vertebral bodies 4 / 7739
32
 (HPO:0003300) Ovoid vertebral bodies 21 / 7739
33
 (HPO:0000926) Platyspondyly Frequent [Orphanet] 150 / 7739
34
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
35
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
36
 (HPO:0000939) Osteoporosis 129 / 7739
37
 (HPO:0002652) Skeletal dysplasia Frequent [Orphanet] 113 / 7739
38
 (HPO:0005616) Accelerated skeletal maturation Occasional [Orphanet] 46 / 7739
39
 (HPO:0002750) Delayed skeletal maturation Frequent [Orphanet] 250 / 7739
40
 (HPO:0011362) Abnormal hair quantity Very frequent [Orphanet] 92 / 7739
41
 (HPO:0000574) Thick eyebrow Very frequent [Orphanet] 96 / 7739
42
 (HPO:0000499) Abnormality of the eyelashes Very frequent [Orphanet] 35 / 7739
43
 (HPO:0007665) Curly eyelashes 6 / 7739
44
 (HPO:0000527) Long eyelashes 46 / 7739
45
 (HPO:0002162) Low posterior hairline Very frequent [Orphanet] 88 / 7739
46
 (HPO:0004540) Congenital, generalized hypertrichosis 11 / 7739
47
 (HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
48
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
49
 (HPO:0000336) Prominent supraorbital ridges Frequent [Orphanet] 45 / 7739
50
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
51
 (HPO:0012471) Thick vermilion border Very frequent [Orphanet] 115 / 7739
52
 (HPO:0000212) Gingival overgrowth 43 / 7739
53
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
54
 (HPO:0000215) Thick upper lip vermilion 17 / 7739
55
 (HPO:0000154) Wide mouth Very frequent [Orphanet] 137 / 7739
56
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
57
 (HPO:0005280) Depressed nasal bridge 381 / 7739
58
 (HPO:0000431) Wide nasal bridge 290 / 7739
59
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
60
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
61
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
62
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
63
 (OMIM) Bands of growth arrest 1 / 7739
64
 (OMIM) Enlarged medullary canal 1 / 7739
65
 (OMIM) Enlarged sella 1 / 7739
66
 (OMIM) Hypoplastic ishchiopubic rami 1 / 7739
67
 (OMIM) Long curly eyelashes 3 / 7739
68
 (OMIM) Narrow obturator foramen 1 / 7739
69
 (OMIM) Short, broad first toe 1 / 7739
70
 (OMIM) Widened ribs 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The hypertrichosis leads to thick scalp hair which extends onto the forehead and to a general increase in body hair. Some ...
Clinical Description OMIM Cantu et al. (1982) described a brother and sister and 2 sporadic cases with a syndrome consisting of generalized congenital hypertrichosis, macrosomy at birth, narrow thorax, cardiomegaly, wide ribs, platyspondyly, hypoplastic ischiopubic branches, small obturator foramen, bilateral coxa ...
Molecular genetics OMIM In 11 of 14 patients from 10 families with Cantu syndrome, including a mother and 2 daughters originally reported by Grange et al. (2006), van Bon et al. (2012) identified heterozygosity for 4 different missense mutations in the ...