Acrodysostosis with multiple hormone resistance

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 40
OrphanetNr: 280651
OMIM Id: 101800
614613
ICD-10: Q75.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Acrofacial dysostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Genetic polyendocrinopathy
 -Rare genetic disease
Mandibulofacial dysostosis
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Polyendocrinopathy
 -Rare endocrine disease

Symptom Information: Sort by abundance 

1
 (HPO:0000135) Hypogonadism 89 / 7739
2
 (HPO:0000028) Cryptorchidism 347 / 7739
3
 (HPO:0000858) Menstrual irregularities 42 / 7739
4
 (HPO:0000455) Broad nasal tip 67 / 7739
5
 (HPO:0000248) Brachycephaly 222 / 7739
6
 (HPO:0000684) Delayed eruption of teeth 117 / 7739
7
 (HPO:0000286) Epicanthus 371 / 7739
8
 (HPO:0000668) Hypodontia 81 / 7739
9
 (HPO:0000689) Dental malocclusion 114 / 7739
10
 (HPO:0000303) Mandibular prognathia 179 / 7739
11
 (HPO:0004490) Calvarial hyperostosis 11 / 7739
12
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
13
 (HPO:0000463) Anteverted nares 305 / 7739
14
 (HPO:0000316) Hypertelorism 644 / 7739
15
 (HPO:0005280) Depressed nasal bridge 381 / 7739
16
 (HPO:0000486) Strabismus 576 / 7739
17
 (HPO:0000648) Optic atrophy 238 / 7739
18
 (HPO:0000635) Blue irides 25 / 7739
19
 (HPO:0000365) Hearing impairment 539 / 7739
20
 (HPO:0001249) Intellectual disability 1089 / 7739
21
 (HPO:0003165) Elevated circulating parathyroid hormone level 17 / 7739
22
 (HPO:0008450) Narrow vertebral interpedicular distance 6 / 7739
23
 (HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
24
 (HPO:0010743) Short metatarsal 56 / 7739
25
 (HPO:0003083) Dislocated radial head 35 / 7739
26
 (HPO:0005616) Accelerated skeletal maturation 46 / 7739
27
 (HPO:0002650) Scoliosis 705 / 7739
28
 (HPO:0001169) Broad palm 43 / 7739
29
 (HPO:0004279) Short palm 323 / 7739
30
 (HPO:0001847) Long hallux 13 / 7739
31
 (HPO:0009803) Short phalanx of finger 79 / 7739
32
 (HPO:0008479) Hypoplastic vertebral bodies 12 / 7739
33
 (HPO:0003416) Spinal canal stenosis 28 / 7739
34
 (HPO:0005756) Neonatal epiphyseal stippling 2 / 7739
35
 (HPO:0010049) Short metacarpal 99 / 7739
36
 (HPO:0008873) Disproportionate short-limb short stature 39 / 7739
37
 (HPO:0001530) Mild postnatal growth retardation 7 / 7739
38
 (HPO:0000995) Melanocytic nevus 63 / 7739
39
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
40
 (HPO:0000238) Hydrocephalus 278 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: