Acro-fronto-facio-nasal dysostosis

General Information (adopted from Orphanet):

Synonyms, Signs: CLEFT LIP/PALATE WITH FRONTONASAL DYSOSTOSIS AND POSTAXIAL POLYSYNDACTYLY
AFFND1
AFFN DYSOSTOSIS 1
POLYSYNDACTYLY, POSTAXIAL, FRONTONASAL DYSOSTOSIS, AND CLEFT LIP/PALATE
Richieri-Costa-Colletto syndrome
Number of Symptoms 47
OrphanetNr: 1784
OMIM Id: 201180
ICD-10: Q75.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Acrofacial dysostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000079) Abnormality of the urinary system Occasional [Orphanet] 88 / 7739
2
 (HPO:0000303) Mandibular prognathia rare [HPO:skoehler] 179 / 7739
3
 (HPO:0000677) Oligodontia rare [HPO:skoehler] 41 / 7739
4
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
5
 (HPO:0007835) S-shaped palpebral fissures rare [HPO:skoehler] 3 / 7739
6
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
7
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] obligate [HPO:skoehler] 644 / 7739
8
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
9
 (HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
10
 (HPO:0000272) Malar flattening 277 / 7739
11
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
12
 (HPO:0000568) Microphthalmia rare [HPO:skoehler] 183 / 7739
13
 (HPO:0000431) Wide nasal bridge 290 / 7739
14
 (HPO:0000159) Abnormality of the lip Frequent [Orphanet] 33 / 7739
15
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
16
 (HPO:0000349) Widow's peak rare [HPO:skoehler] 26 / 7739
17
 (HPO:0000175) Cleft palate 349 / 7739
18
 (HPO:0000154) Wide mouth 137 / 7739
19
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
20
 (HPO:0000204) Cleft upper lip Very frequent [Orphanet] 193 / 7739
21
 (HPO:0000527) Long eyelashes rare [HPO:skoehler] 46 / 7739
22
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
23
 (HPO:0000625) Cleft eyelid Very frequent [Orphanet] 31 / 7739
24
 (HPO:0004523) Long eyebrows rare [HPO:skoehler] 4 / 7739
25
 (HPO:0001089) Iris atrophy rare [HPO:skoehler] 8 / 7739
26
 (HPO:0000648) Optic atrophy rare [HPO:skoehler] 238 / 7739
27
 (HPO:0001088) Brushfield spots Very frequent [Orphanet] 8 / 7739
28
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
29
 (HPO:0000410) Mixed hearing impairment rare [HPO:skoehler] 22 / 7739
30
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
31
 (HPO:0001249) Intellectual disability obligate [HPO:skoehler] 1089 / 7739
32
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
33
 (HPO:0010049) Short metacarpal 99 / 7739
34
 (HPO:0000767) Pectus excavatum rare [HPO:skoehler] 244 / 7739
35
 (HPO:0003027) Mesomelia Very frequent [Orphanet] 58 / 7739
36
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
37
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
38
 (HPO:0011304) Broad thumb rare [HPO:skoehler] 39 / 7739
39
 (HPO:0008807) Acetabular dysplasia 6 / 7739
40
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
41
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
42
 (HPO:0004322) Short stature Very frequent [Orphanet] obligate [HPO:skoehler] 1232 / 7739
43
 (HPO:0001792) Small nail 55 / 7739
44
 (HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
45
 (HPO:0001053) Hypopigmented skin patches Very frequent [Orphanet] 80 / 7739
46
 (HPO:0002120) Cerebral cortical atrophy Very frequent [Orphanet] 187 / 7739
47
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Richieri-Costa et al. (1985) described an apparently 'new' autosomal recessive MCA/MR syndrome in a boy and girl, offspring of first-cousin parents. Both had mental retardation, short stature, hypertelorism, broad notched nasal tip, cleft lip/palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia, ...