Acrocapitofemoral dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: ACFD
Number of Symptoms 59
OrphanetNr: 63446
OMIM Id: 607778
ICD-10: Q78.8
UMLs:
MeSH:
MedDRA:
Snomed:

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: Acromelic dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000256) Macrocephaly Occasional [Orphanet] 298 / 7739
2
 (HPO:0004482) Relative macrocephaly 12624140 IBIS 44 / 7739
3
 (HPO:0000774) Narrow chest Occasional [Orphanet] 12624140 IBIS 167 / 7739
4
 (HPO:0100864) Short femoral neck 12624140 IBIS 36 / 7739
5
 (HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
6
 (HPO:0010579) Cone-shaped epiphysis Very frequent [Orphanet] 54 / 7739
7
 (HPO:0002938) Lumbar hyperlordosis 12624140 IBIS 73 / 7739
8
 (HPO:0010017) Cone-shaped epiphysis of the 1st metacarpal 12624140 IBIS 1 / 7739
9
 (HPO:0010241) Short proximal phalanx of finger 12624140 IBIS 4 / 7739
10
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
11
 (HPO:0005257) Thoracic hypoplasia Occasional [Orphanet] 79 / 7739
12
 (HPO:0003022) Hypoplasia of the ulna 12624140 IBIS 40 / 7739
13
 (HPO:0009882) Short distal phalanx of finger 12624140 IBIS 125 / 7739
14
 (HPO:0008789) Cone-shaped capital femoral epiphysis 12624140 IBIS 2 / 7739
15
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
16
 (HPO:0000768) Pectus carinatum Occasional [Orphanet] 12624140 IBIS 136 / 7739
17
 (HPO:0006438) Enlargement of the distal femoral epiphysis 12624140 IBIS 1 / 7739
18
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
19
 (HPO:0002812) Coxa vara 12624140 IBIS 58 / 7739
20
 (HPO:0010049) Short metacarpal 12624140 IBIS 99 / 7739
21
 (HPO:0003300) Ovoid vertebral bodies 12624140 IBIS 21 / 7739
22
 (HPO:0002866) Hypoplastic iliac wing 12624140 IBIS 34 / 7739
23
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
24
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
25
 (HPO:0005736) Short tibia 12624140 IBIS 19 / 7739
26
 (HPO:0001216) Delayed ossification of carpal bones 12624140 IBIS 30 / 7739
27
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
28
 (HPO:0009638) Short proximal phalanx of thumb 12624140 IBIS 4 / 7739
29
 (HPO:0010575) Dysplasia of the femoral head 12624140 IBIS 1 / 7739
30
 (HPO:0002823) Abnormality of the femur Very frequent [Orphanet] 61 / 7739
31
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
32
 (HPO:0002984) Hypoplasia of the radius 12624140 IBIS 44 / 7739
33
 (HPO:0003099) Fibular overgrowth 12624140 IBIS 2 / 7739
34
 (HPO:0005792) Short humerus 12624140 IBIS 34 / 7739
35
 (HPO:0002869) Flared iliac wings 12624140 IBIS 20 / 7739
36
 (HPO:0000773) Short ribs 12624140 IBIS 70 / 7739
37
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 12624140 IBIS 244 / 7739
38
 (HPO:0002970) Genu varum Frequent [Orphanet] 12624140 IBIS 60 / 7739
39
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
40
 (HPO:0002650) Scoliosis Occasional [Orphanet] 12624140 IBIS 705 / 7739
41
 (HPO:0003097) Short femur 12624140 IBIS 13 / 7739
42
 (HPO:0000887) Cupped ribs 12624140 IBIS 9 / 7739
43
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
44
 (HPO:0008873) Disproportionate short-limb short stature 39 / 7739
45
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
46
 (HPO:0003498) Disproportionate short stature 12624140 IBIS 28 / 7739
47
 (HPO:0001821) Broad nail 12624140 IBIS 5 / 7739
48
 (HPO:0001804) Hypoplastic fingernail Frequent [Orphanet] 62 / 7739
49
 (OMIM) Anterior notching of vertebral bodies 1 / 7739
50
 (OMIM) Birth length normal 15 / 7739
51
 (OMIM) Short, flared iliac wings 1 / 7739
52
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
53
 (OMIM) Egg-shaped femoral head 1 / 7739
54
 (OMIM) Normal intelligence 81 / 7739
55
 (MedDRA:10072883) Brachydactyly 153 / 7739
56
 (OMIM) Short middle and distal phalanges 1 / 7739
57
 (OMIM) Short limbs 17 / 7739
58
 (OMIM) Small finger nails 1 / 7739
59
 (OMIM) Varus deformity (humeral head) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mortier et al. (2003) described 4 patients from 2 consanguineous pedigrees, 1 Belgian and 1 Dutch, with a theretofore undescribed autosomal recessive skeletal dysplasia, which they termed acrocapitofemoral dysplasia. The clinical phenotype is characterized by short stature of ...
Molecular genetics OMIM Using a candidate gene approach, Hellemans et al. (2003) identified 2 missense mutations in the N-terminal signaling domain of the gene encoding Indian hedgehog (IHH; 600726). Both affected individuals in the Belgian family were homozygous for a 137C-T ...