Postaxial acrofacial dysostosis

General Information (adopted from Orphanet):

Synonyms, Signs: GENEE-WIEDEMANN SYNDROME
POADS
Acrofacial dysostosis, Genee-Wiedmann type
miller syndrome
Postaxial acrodysostosis
Mandibulfacial dysostosis with postaxial limb anomalies
Number of Symptoms 44
OrphanetNr: 246
OMIM Id: 263750
ICD-10: Q75.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 30 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Antenatal
Neonatal
[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
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Secondary ectropion
 -Rare eye disease
 -Rare genetic disease
Syndrome or malformation associated with head and neck malformations
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Syndromic palpebral coloboma
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000625) Cleft eyelid Very frequent [Orphanet] 31 / 7739
2
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
3
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
4
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
5
 (HPO:0009778) Short thumb 50 / 7739
6
 (HPO:0001159) Syndactyly 140 / 7739
7
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
8
 (HPO:0001760) Abnormality of the foot 96 / 7739
9
 (HPO:0001374) Congenital hip dislocation 51 / 7739
10
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
11
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
12
 (HPO:0002974) Radioulnar synostosis 52 / 7739
13
 (HPO:0002997) Abnormality of the ulna Very frequent [Orphanet] 75 / 7739
14
 (HPO:0003022) Hypoplasia of the ulna 40 / 7739
15
 (HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
16
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
17
 (HPO:0000347) Micrognathia 426 / 7739
18
 (HPO:0000767) Pectus excavatum 244 / 7739
19
 (HPO:0002558) Supernumerary nipple Very frequent [Orphanet] 40 / 7739
20
 (HPO:0002946) Supernumerary vertebrae 3 / 7739
21
 (HPO:0005211) Midgut malrotation 1 / 7739
22
 (HPO:0002021) Pyloric stenosis 51 / 7739
23
 (HPO:0000054) Micropenis 257 / 7739
24
 (HPO:0000028) Cryptorchidism 347 / 7739
25
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
26
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
27
 (HPO:0000175) Cleft palate 349 / 7739
28
 (HPO:0000698) Conical tooth 14 / 7739
29
 (HPO:0000204) Cleft upper lip Frequent [Orphanet] 193 / 7739
30
 (HPO:0000202) Oral cleft Frequent [Orphanet] 120 / 7739
31
 (HPO:0000453) Choanal atresia 76 / 7739
32
 (HPO:0000492) Abnormality of the eyelid Very frequent [Orphanet] 41 / 7739
33
 (HPO:0000656) Ectropion 25 / 7739
34
 (HPO:0000405) Conductive hearing impairment Frequent [Orphanet] 164 / 7739
35
 (HPO:0004452) Abnormality of the middle ear ossicles Frequent [Orphanet] 26 / 7739
36
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
37
 (HPO:0000378) Cupped ear 34 / 7739
38
 (HPO:0000369) Low-set ears 372 / 7739
39
 (HPO:0000077) Abnormality of the kidney 73 / 7739
40
 (HPO:0008897) Postnatal growth retardation 113 / 7739
41
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
42
 (OMIM) Absence of fifth digit 1 / 7739
43
 (OMIM) In-curving forearms 1 / 7739
44
 (OMIM) Rib defects 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Miller syndrome, or postaxial acrofacial dysostosis, is a rare autosomal recessive disorder characterized clinically by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, and supernumerary nipples ...
Clinical Description OMIM Miller et al. (1979) described 3 patients with postaxial limb deficiency, cup-shaped ears, and malar hypoplasia, and reviewed other reported cases. An affected sib of one of the patients of Miller et al. (1979) was reported by Fineman ...
Molecular genetics OMIM In 4 affected individuals from 3 independent kindreds, Ng et al. (2010) captured and sequenced coding regions to a mean coverage of 40X and sufficient depth to call variants at approximately 97% of each targeted exome. Filtering against ...