Acrocraniofacial dysostosis

General Information (adopted from Orphanet):

Synonyms, Signs: Kaplan-Plauchu-Fitch syndrome
Number of Symptoms 63
OrphanetNr: 949
OMIM Id: 201050
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 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
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

Symptom Information: Sort by abundance 

1
 (HPO:0000239) Large fontanelles Frequent [Orphanet] 135 / 7739
2
 (HPO:0000347) Micrognathia 426 / 7739
3
 (HPO:0000601) Hypotelorism 83 / 7739
4
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
5
 (HPO:0009796) Branchial cyst Very frequent [Orphanet] 32 / 7739
6
 (HPO:0000175) Cleft palate 349 / 7739
7
 (HPO:0000695) Natal tooth Frequent [Orphanet] 42 / 7739
8
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
9
 (HPO:0000340) Sloping forehead Frequent [Orphanet] 86 / 7739
10
 (HPO:0000426) Prominent nasal bridge Very frequent [Orphanet] 121 / 7739
11
 (HPO:0000262) Turricephaly Very frequent [Orphanet] 38 / 7739
12
 (HPO:0000263) Oxycephaly 10 / 7739
13
 (HPO:0000453) Choanal atresia Frequent [Orphanet] 76 / 7739
14
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
15
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
16
 (HPO:0001363) Craniosynostosis Frequent [Orphanet] 132 / 7739
17
 (HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
18
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
19
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
20
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
21
 (HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
22
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
23
 (HPO:0000632) Lacrimation abnormality Frequent [Orphanet] 42 / 7739
24
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
25
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
26
 (HPO:0000356) Abnormality of the outer ear 85 / 7739
27
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
28
 (HPO:0000405) Conductive hearing impairment Frequent [Orphanet] 164 / 7739
29
 (HPO:0004452) Abnormality of the middle ear ossicles Frequent [Orphanet] 26 / 7739
30
 (HPO:0000598) Abnormality of the ear Very frequent [Orphanet] 98 / 7739
31
 (HPO:0004467) Preauricular pit 39 / 7739
32
 (HPO:0006958) Abnormal auditory evoked potentials 12 / 7739
33
 (HPO:0001840) Metatarsus adductus 49 / 7739
34
 (HPO:0010034) Short 1st metacarpal 19 / 7739
35
 (HPO:0000925) Abnormality of the vertebral column 20 / 7739
36
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
37
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
38
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
39
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
40
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
41
 (HPO:0002857) Genu valgum Frequent [Orphanet] 144 / 7739
42
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
43
 (HPO:0009465) Ulnar deviation of finger Frequent [Orphanet] 48 / 7739
44
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
45
 (HPO:0001182) Tapered finger Very frequent [Orphanet] 93 / 7739
46
 (HPO:0010105) Short first metatarsal 4 / 7739
47
 (HPO:0003298) Spina bifida occulta Frequent [Orphanet] 67 / 7739
48
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
49
 (HPO:0008388) Abnormality of the toenails Very frequent [Orphanet] 28 / 7739
50
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
51
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
52
 (OMIM) Interpedicular distance increased 1 / 7739
53
 (OMIM) Malleus malformed 1 / 7739
54
 (OMIM) Digits bulbous 1 / 7739
55
 (HPO:0001199) Triphalangeal thumb Very frequent [Orphanet] 56 / 7739
56
 (OMIM) Nares anteverted 1 / 7739
57
 (OMIM) Incus malformed 1 / 7739
58
 (OMIM) Lumbar vertebrae tall 2 / 7739
59
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
60
 (OMIM) Thumb, distal phalanx partial duplication 1 / 7739
61
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739
62
 (OMIM) Thumbs digitalized 2 / 7739
63
 (OMIM) Great toes proximally placed 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kaplan et al. (1988) described 2 sisters, born to consanguineous parents, with a syndrome of short stature, acrocephaly, hypotelorism, proptosis, ptosis, downslanting palpebral fissures, high nose bridge and anteverted nares, short philtrum, cleft palate, micrognathia, abnormal external ears, ...