Acrofacial dysostosis, Palagonia type

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 42
OrphanetNr: 1787
OMIM Id: 601829
ICD-10: Q75.4
UMLs: C1866168
MeSH: C538185
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Autosomal dominant
X-linked dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Acrofacial dysostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Branchial arch or oral-acral syndrome
 -Rare developmental defect during embryogenesis
Genetic branchial arch or oral-acral syndrome
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
2
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
3
 (HPO:0010554) Cutaneous finger syndactyly 39 / 7739
4
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
5
 (HPO:0010044) Short 4th metacarpal 14 / 7739
6
 (HPO:0200055) Small hand Very frequent [Orphanet] 71 / 7739
7
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
8
 (HPO:0000337) Broad forehead Frequent [Orphanet] 116 / 7739
9
 (HPO:0000294) Low anterior hairline Very frequent [Orphanet] 52 / 7739
10
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
11
 (HPO:0003311) Hypoplasia of the odontoid process 34 / 7739
12
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
13
 (HPO:0003468) Abnormality of the vertebrae 77 / 7739
14
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
15
 (HPO:0003298) Spina bifida occulta Occasional [Orphanet] 67 / 7739
16
 (HPO:0004614) Spina bifida occulta at S1 2 / 7739
17
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
18
 (HPO:0003777) Pili torti Occasional [Orphanet] 24 / 7739
19
 (HPO:0002224) Woolly hair 26 / 7739
20
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Frequent [Orphanet] 117 / 7739
21
 (HPO:0005338) Sparse lateral eyebrow Very frequent [Orphanet] 21 / 7739
22
 (HPO:0200102) Sparse or absent eyelashes Very frequent [Orphanet] 64 / 7739
23
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
24
 (HPO:0000272) Malar flattening Frequent [Orphanet] 277 / 7739
25
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
26
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
27
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
28
 (HPO:0011069) Increased number of teeth Frequent [Orphanet] 39 / 7739
29
 (HPO:0000677) Oligodontia 41 / 7739
30
 (HPO:0000288) Abnormality of the philtrum Frequent [Orphanet] 54 / 7739
31
 (HPO:0000204) Cleft upper lip Occasional [Orphanet] 193 / 7739
32
 (HPO:0100333) Unilateral cleft lip 2 / 7739
33
 (HPO:0005105) Abnormal nasal morphology Frequent [Orphanet] 114 / 7739
34
 (HPO:0000492) Abnormality of the eyelid Occasional [Orphanet] 41 / 7739
35
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
36
 (HPO:0008065) Aplasia/Hypoplasia of the skin Occasional [Orphanet] 81 / 7739
37
 (HPO:0001057) Aplasia cutis congenita 7 / 7739
38
 (OMIM) Aplasia cutis verticis 2 / 7739
39
 (OMIM) Cutaneous syndactyly of digits 2-5 1 / 7739
40
 (OMIM) Large atlas 1 / 7739
41
 (OMIM) Mild scoliosis 7 / 7739
42
 (OMIM) Normal intelligence 81 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: