Cartilage-hair hypoplasia

General Information (adopted from Orphanet):

Synonyms, Signs: CHH
metaphyseal chondrodysplasia, mckusick type
Autosomal recessive metaphyseal chondrodysplasia
Number of Symptoms 123
OrphanetNr: 175
OMIM Id: 250250
ICD-10: Q78.8
UMLs: C0220748
MeSH: C535916
MedDRA: 10069596
Snomed: 7720002

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Immuno-osseous dysplasia
 -Rare genetic disease
 -Rare immune disease
Multiple metaphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
2
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
3
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
4
 (HPO:0000653) Sparse eyelashes 58 / 7739
5
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
6
 (HPO:0010650) Hypoplasia of the premaxilla Very frequent [Orphanet] 39 / 7739
7
 (HPO:0000445) Wide nose Occasional [Orphanet] 190 / 7739
8
 (HPO:0000457) Depressed nasal ridge Occasional [Orphanet] 85 / 7739
9
 (HPO:0100729) Large face Very frequent [Orphanet] 19 / 7739
10
 (HPO:0000431) Wide nasal bridge Occasional [Orphanet] 290 / 7739
11
 (HPO:0000463) Anteverted nares Occasional [Orphanet] 305 / 7739
12
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
13
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
14
 (HPO:0000168) Abnormality of the gingiva Frequent [Orphanet] 51 / 7739
15
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
16
 (HPO:0000248) Brachycephaly Occasional [Orphanet] Occasional [HPO:probinson] 222 / 7739
17
 (HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 87 / 7739
18
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
19
 (HPO:0000592) Blue sclerae Very frequent [Orphanet] 85 / 7739
20
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
21
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
22
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
23
 (HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 266 / 7739
24
 (HPO:0000540) Hypermetropia Very frequent [Orphanet] 99 / 7739
25
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
26
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
27
 (HPO:0002251) Aganglionic megacolon Occasional [Orphanet] 78 / 7739
28
 (HPO:0001315) Reduced tendon reflexes Frequent [Orphanet] 160 / 7739
29
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
30
 (HPO:0010301) Spinal dysraphism Very frequent [Orphanet] 14 / 7739
31
 (HPO:0003307) Hyperlordosis Very frequent [Orphanet] 122 / 7739
32
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
33
 (HPO:0002644) Abnormality of pelvic girdle bone morphology 31 / 7739
34
 (HPO:0004599) Absent or minimally ossified vertebral bodies Very frequent [Orphanet] 18 / 7739
35
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
36
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
37
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
38
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
39
 (HPO:0001377) Limited elbow extension 38 / 7739
40
 (HPO:0000924) Abnormality of the skeletal system Very frequent [Orphanet] 114 / 7739
41
 (HPO:0001238) Slender finger Very frequent [Orphanet] 23 / 7739
42
 (HPO:0100255) Metaphyseal dysplasia 26 / 7739
43
 (HPO:0002992) Abnormality of the tibia Very frequent [Orphanet] 51 / 7739
44
 (HPO:0003016) Metaphyseal widening 41 / 7739
45
 (HPO:0003021) Metaphyseal cupping 16 / 7739
46
 (HPO:0006589) Flaring of lower rib cage 1 / 7739
47
 (HPO:0008450) Narrow vertebral interpedicular distance 6 / 7739
48
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
49
 (HPO:0005701) Multiple enchondromatosis Very frequent [Orphanet] 11 / 7739
50
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
51
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
52
 (HPO:0002750) Delayed skeletal maturation Occasional [Orphanet] 250 / 7739
53
 (HPO:0200055) Small hand Occasional [Orphanet] 71 / 7739
54
 (HPO:0011867) Abnormality of the wing of the ilium Occasional [Orphanet] 123 / 7739
55
 (HPO:0009815) Aplasia/hypoplasia of the extremities 6 / 7739
56
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
57
 (HPO:0011849) Abnormal bone ossification Very frequent [Orphanet] 35 / 7739
58
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
59
 (HPO:0000768) Pectus carinatum Occasional [Orphanet] 136 / 7739
60
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
61
 (HPO:0005257) Thoracic hypoplasia Occasional [Orphanet] 79 / 7739
62
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
63
 (HPO:0003027) Mesomelia Very frequent [Orphanet] 58 / 7739
64
 (HPO:0010769) Pilonidal sinus Occasional [Orphanet] 35 / 7739
65
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
66
 (HPO:0100759) Clubbing of fingers Very frequent [Orphanet] 40 / 7739
67
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
68
 (HPO:0005616) Accelerated skeletal maturation Occasional [Orphanet] 46 / 7739
69
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
70
 (HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
71
 (HPO:0012090) Abnormality of pancreas morphology Very frequent [Orphanet] 31 / 7739
72
 (HPO:0002024) Malabsorption Frequent [Orphanet] 142 / 7739
73
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
74
 (HPO:0010318) Aplasia/Hypoplasia of the abdominal wall musculature Occasional [Orphanet] 55 / 7739
75
 (HPO:0002032) Esophageal atresia 19 / 7739
76
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
77
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
78
 (HPO:0008921) Neonatal short-limb short stature 12 / 7739
79
 (HPO:0008069) Neoplasm of the skin 84 / 7739
80
 (HPO:0007464) Sparse facial hair 2 / 7739
81
 (HPO:0002213) Fine hair 77 / 7739
82
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
83
 (HPO:0002286) Fair hair 20 / 7739
84
 (HPO:0004760) Congenital septal defect Very frequent [Orphanet] 69 / 7739
85
 (HPO:0011025) Abnormality of cardiovascular system physiology Occasional [Orphanet] 41 / 7739
86
 (HPO:0001638) Cardiomyopathy Very frequent [Orphanet] 192 / 7739
87
 (HPO:0001875) Neutropenia 83 / 7739
88
 (HPO:0004810) Congenital hypoplastic anemia 4 / 7739
89
 (HPO:0010701) Abnormal immunoglobulin level Occasional [Orphanet] 49 / 7739
90
 (HPO:0003347) Impaired lymphocyte transformation with phytohemagglutinin 6 / 7739
91
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
92
 (HPO:0002665) Lymphoma Rare [HPO:probinson] 11124791 IBIS 60 / 7739
93
 (HPO:0001972) Macrocytic anemia 26 / 7739
94
 (HPO:0001888) Lymphopenia 43 / 7739
95
 (HPO:0001874) Abnormality of neutrophils Very frequent [Orphanet] 47 / 7739
96
 (HPO:0002901) Hypocalcemia Very frequent [Orphanet] 56 / 7739
97
 (HPO:0011020) Abnormality of mucopolysaccharide metabolism Frequent [Orphanet] 17 / 7739
98
 (HPO:0003220) Abnormality of chromosome stability Occasional [Orphanet] 98 / 7739
99
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
100
 (HPO:0002777) Tracheal stenosis Very frequent [Orphanet] 35 / 7739
101
 (HPO:0005374) Cellular immunodeficiency 5 / 7739
102
 (HPO:0005360) Susceptibility to chickenpox 1 / 7739
103
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
104
 (OMIM) Mild scoliosis 7 / 7739
105
 (OMIM) Normal 14 / 7739
106
 (OMIM) Fine, sparse, light-colored hair 1 / 7739
107
 (OMIM) Small pelvic inlet 1 / 7739
108
 (OMIM) Occasional mild odontoid hypoplasia 1 / 7739
109
 (OMIM) Sparse eyebrows, eyelashes, and beard 1 / 7739
110
 (HPO:0400004) Long ear Occasional [Orphanet] 94 / 7739
111
 (OMIM) Tibia shorter than fibula 1 / 7739
112
 (OMIM) Increased malignancy risk, especially lymphoma and skin neoplasm 1 / 7739
113
 (OMIM) Average adult height, 107 to 143 cm 1 / 7739
114
 (OMIM) Diminished lymphocyte response to phytohemaglutinin 1 / 7739
115
 (OMIM) Occasional brachycephaly 1 / 7739
116
 (OMIM) Joint hyperextensibility, especially hands, wrist, and feet 1 / 7739
117
 (OMIM) Specific growth curves are available 5 / 7739
118
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
119
 (OMIM) Normocephaly 10 / 7739
120
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
121
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
122
 (OMIM) Femurs mildly bowed 2 / 7739
123
 (OMIM) Weak or absent pubertal growth spurt 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cartilage-hair hypoplasia is a form of short-limbed dwarfism due to skeletal dysplasia, which was first recognized by McKusick et al. (1965) in the Old Order Amish, a religious isolate (see also McKusick, 1978).

Makitie et al. ...
Clinical Description OMIM McKusick et al. (1965) described cartilage-hair hypoplasia in several Amish families. Skeletal features included incomplete extension at the elbows, anterolateral chest deformity like Harrison grooves, genu varum, and excessively long fibula distally relative to the tibia. The fingers ...
Molecular genetics OMIM Using a positional cloning strategy and mutation analysis, Ridanpaa et al. (2001) showed that mutations in the RMRP gene (e.g., 157660.0001) are responsible for CHH.

Hirose et al. (2006) screened 9 Japanese patients for mutations in ...
Population genetics OMIM Makitie (1992) presented an epidemiologic and genetic study of 107 (46 males and 61 females) CHH patients distributed in 85 families in Finland. Of the 107, 18 had died, 7 before the age of 1 year. The living ...