MCID: ACR101
MIFTS: 24

Acrocraniofacial Dysostosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Acrocraniofacial Dysostosis

MalaCards integrated aliases for Acrocraniofacial Dysostosis:

Name: Acrocraniofacial Dysostosis 56 52 58
Kaplan Plauchu Fitch Syndrome 52 71
Kaplan-Plauchu-Fitch Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
acrocraniofacial dysostosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
based on one report of 2 sisters


HPO:

31
acrocraniofacial dysostosis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Acrocraniofacial Dysostosis

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 949 Definition A very rare acrofacialdyosotosis characterized by short stature , acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate , micrognathia , abnormal external ears, preauricular pits, mixed hearing loss , bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988. Visit the Orphanet disease page for more resources.

MalaCards based summary : Acrocraniofacial Dysostosis, also known as kaplan plauchu fitch syndrome, is related to chromosome 2q35 duplication syndrome and cryptorchidism, unilateral or bilateral. Affiliated tissues include bone and heart, and related phenotypes are ptosis and short stature

More information from OMIM: 201050

Related Diseases for Acrocraniofacial Dysostosis

Diseases related to Acrocraniofacial Dysostosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 2q35 duplication syndrome 10.3
2 cryptorchidism, unilateral or bilateral 10.3
3 atrioventricular septal defect 10.3
4 heart septal defect 10.3
5 dysostosis 10.3

Graphical network of the top 20 diseases related to Acrocraniofacial Dysostosis:



Diseases related to Acrocraniofacial Dysostosis

Symptoms & Phenotypes for Acrocraniofacial Dysostosis

Human phenotypes related to Acrocraniofacial Dysostosis:

58 31 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
4 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
5 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
6 broad thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0011304
7 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
8 short philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000322
9 abnormal form of the vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003312
10 abnormality of the pinna 58 31 hallmark (90%) Very frequent (99-80%) HP:0000377
11 prominent nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000426
12 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
13 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
14 preauricular pit 58 31 hallmark (90%) Very frequent (99-80%) HP:0004467
15 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
16 turricephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000262
17 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
18 triphalangeal thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0001199
19 tapered finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0001182
20 short 1st metacarpal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010034
21 abnormal toenail morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0008388
22 flared iliac wings 58 31 hallmark (90%) Very frequent (99-80%) HP:0002869
23 partial duplication of the distal phalanx of the hallux 58 31 hallmark (90%) Very frequent (99-80%) HP:0010097
24 abnormal fingernail morphology 31 hallmark (90%) HP:0001231
25 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
26 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
27 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
28 craniosynostosis 58 31 frequent (33%) Frequent (79-30%) HP:0001363
29 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
30 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
31 sloping forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000340
32 coxa valga 58 31 frequent (33%) Frequent (79-30%) HP:0002673
33 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
34 choanal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0000453
35 lacrimation abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000632
36 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
37 spina bifida occulta 58 31 frequent (33%) Frequent (79-30%) HP:0003298
38 ulnar deviation of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009465
39 advanced eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0006288
40 abnormality of the incus 58 31 frequent (33%) Frequent (79-30%) HP:0011453
41 abnormality of the malleus 58 31 frequent (33%) Frequent (79-30%) HP:0011454
42 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
43 malformation of the heart and great vessels 58 Frequent (79-30%)
44 abnormality of the hip bone 58 Frequent (79-30%)
45 metatarsus adductus 31 HP:0001840
46 webbed neck 31 HP:0000465
47 abnormality of the fingernails 58 Very frequent (99-80%)
48 abnormality of the vertebral column 31 HP:0000925
49 hypotelorism 31 HP:0000601
50 abnormality of the middle ear ossicles 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
ptosis
proptosis
hypotelorism
downslanting palpebral fissures

Head And Neck Face:
micrognathia

Head And Neck Nose:
anteverted nares
short philtrum
broad nose
high nasal bridge

Skeletal Feet:
metatarsus adductus
first metatarsals hypoplastic
great toes proximally placed

Skeletal Spine:
tall lumbar vertebrae
increased interpedicular distance

Head And Neck Neck:
webbed neck (in 1 patient)

Growth Height:
short stature

Skeletal Skull:
craniosynostosis
acrocephaly

Head And Neck Mouth:
cleft palate

Head And Neck Ears:
preauricular pits
abnormal pinnae
sensorineural deafness (in 1 patient)
conductive deafness (in 1 patient)
malformed malleus (in 1 patient)
more
Head And Neck Teeth:
natal teeth (in 1 patient)

Skeletal Hands:
thumbs digitalized
digits bulbous
thumb, distal phalanx partial duplication
first metacarpals hypoplastic

Clinical features from OMIM:

201050

Drugs & Therapeutics for Acrocraniofacial Dysostosis

Search Clinical Trials , NIH Clinical Center for Acrocraniofacial Dysostosis

Genetic Tests for Acrocraniofacial Dysostosis

Anatomical Context for Acrocraniofacial Dysostosis

MalaCards organs/tissues related to Acrocraniofacial Dysostosis:

40
Bone, Heart

Publications for Acrocraniofacial Dysostosis

Articles related to Acrocraniofacial Dysostosis:

# Title Authors PMID Year
1
A new acro-cranio-facial dysostosis syndrome in sisters. 56
3344780 1988
2
Clinical and genetic aspects of trigonocephaly: a study of 25 cases. 61
12567409 2003
3
Isolated craniosynostosis: prenatal ultrasound of scaphocephaly with polyhydramnios. 61
11858399 2001
4
Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple café-au-lait spots: new acrocraniofacial dysostosis syndrome? 61
11424146 2001
5
Craniosynostosis update 1987. 61
3144990 1988

Variations for Acrocraniofacial Dysostosis

Expression for Acrocraniofacial Dysostosis

Search GEO for disease gene expression data for Acrocraniofacial Dysostosis.

Pathways for Acrocraniofacial Dysostosis

GO Terms for Acrocraniofacial Dysostosis

Sources for Acrocraniofacial Dysostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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