PAFD
MCID: ACR107
MIFTS: 26

Acrofacial Dysostosis, Palagonia Type (PAFD)

Categories: Bone diseases, Fetal diseases, Rare diseases
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Aliases & Classifications for Acrofacial Dysostosis, Palagonia Type

MalaCards integrated aliases for Acrofacial Dysostosis, Palagonia Type:

Name: Acrofacial Dysostosis, Palagonia Type 57 58
Palagonia Type of Acrofacial Dysostosis 19
Acrofacial Dysostosis Palagonia Type 19
Palagonia Form of Afd 19
Afd- Palagonia Type 19
Pafd 19

Characteristics:


Inheritance:

Autosomal dominant 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
one family has been reported, a mother and 3 children


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Acrofacial Dysostosis, Palagonia Type

GARD: 19 A very rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.

MalaCards based summary: Acrofacial Dysostosis, Palagonia Type, also known as palagonia type of acrofacial dysostosis, is related to acrofacial dysostosis, patagonia type and neural tube defects. Affiliated tissues include bone and skin, and related phenotypes are delayed skeletal maturation and short stature

Orphanet: 58 A very rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.

More information from OMIM: 601829

Related Diseases for Acrofacial Dysostosis, Palagonia Type

Diseases related to Acrofacial Dysostosis, Palagonia Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 acrofacial dysostosis, patagonia type 11.4
2 neural tube defects 10.3
3 chromosome 2q35 duplication syndrome 10.3
4 pili torti, early-onset 10.3
5 spondylocostal dysostosis 1, autosomal recessive 10.3
6 tooth agenesis 10.3
7 scoliosis 10.3
8 acrofacial dysostosis 10.3
9 spina bifida occulta 10.3
10 meningocele 10.3
11 tethered spinal cord syndrome 10.3
12 dysostosis 10.3
13 cleft lip 10.3

Graphical network of the top 20 diseases related to Acrofacial Dysostosis, Palagonia Type:



Diseases related to Acrofacial Dysostosis, Palagonia Type

Symptoms & Phenotypes for Acrofacial Dysostosis, Palagonia Type

Human phenotypes related to Acrofacial Dysostosis, Palagonia Type:

58 30 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002750
2 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
3 micrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000347
4 low-set ears 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000369
5 short 4th metacarpal 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010044
6 low anterior hairline 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000294
7 finger syndactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006101
8 small hand 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0200055
9 midface retrusion 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011800
10 sparse lateral eyebrow 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005338
11 posteriorly rotated ears 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000358
12 sparse eyelashes 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000653
13 oligodontia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000677
14 short neck 58 30 Frequent (33%) Frequent (79-30%)
HP:0000470
15 abnormal form of the vertebral bodies 58 30 Frequent (33%) Frequent (79-30%)
HP:0003312
16 malar flattening 58 30 Frequent (33%) Frequent (79-30%)
HP:0000272
17 bulbous nose 58 30 Frequent (33%) Frequent (79-30%)
HP:0000414
18 broad forehead 58 30 Frequent (33%) Frequent (79-30%)
HP:0000337
19 thin eyebrow 58 30 Frequent (33%) Frequent (79-30%)
HP:0045074
20 supernumerary tooth 30 Frequent (33%) HP:0011069
21 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
22 high, narrow palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002705
23 spina bifida occulta 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003298
24 pili torti 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003777
25 dermal atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004334
26 unilateral cleft lip 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100333
27 abnormal vertebral morphology 30 HP:0003468
28 prominent forehead 30 HP:0011220
29 aplasia/hypoplasia of the skin 58 Occasional (29-5%)
30 hypotrichosis 58 Frequent (79-30%)
31 cleft upper lip 30 HP:0000204
32 abnormal eyelid morphology 58 Occasional (29-5%)
33 increased number of teeth 58 Frequent (79-30%)
34 cutaneous finger syndactyly 30 HP:0010554
35 sparse eyebrow 30 HP:0045075
36 aplasia cutis congenita 30 HP:0001057
37 hypoplasia of the odontoid process 30 HP:0003311
38 spina bifida occulta at s1 30 HP:0004614

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Height:
short stature

Head And Neck Teeth:
oligodontia

Head And Neck Eyes:
sparse eyebrows

Skeletal Hands:
cutaneous syndactyly (digits 2-5)
attenuation of fourth metacarpal

Head And Neck Face:
prominent forehead

Head And Neck Mouth:
malar hypoplasia
cleft lip, unilateral (in some patients)

Skeletal Spine:
large atlas (in some patients)
scoliosis, mild (in some patients)
small odontoid process (in some patients)
spina bifida occulta (in some patients)

Skin Nails Hair Hair:
pili torti (in some patients)
aplasia cutis verticis (in some patients)

Clinical features from OMIM®:

601829 (Updated 08-Dec-2022)

Drugs & Therapeutics for Acrofacial Dysostosis, Palagonia Type

Search Clinical Trials, NIH Clinical Center for Acrofacial Dysostosis, Palagonia Type

Genetic Tests for Acrofacial Dysostosis, Palagonia Type

Anatomical Context for Acrofacial Dysostosis, Palagonia Type

Organs/tissues related to Acrofacial Dysostosis, Palagonia Type:

MalaCards : Bone, Skin

Publications for Acrofacial Dysostosis, Palagonia Type

Articles related to Acrofacial Dysostosis, Palagonia Type:

(show all 25)
# Title Authors PMID Year
1
Another "new" form, the palagonia type of acrofacial dysostosis in a Sicilian family. 62 57
9098488 1997
2
A reactive oxygen species-replenishing coordination polymer nanomedicine disrupts redox homeostasis and induces concurrent apoptosis-ferroptosis for combinational cancer therapy. 62
35926781 2022
3
Applying Image-Based Food Recognition Systems On Dietary Assessment: a Systematic Review. 62
35803496 2022
4
Pulmonary Artery Filling Defects in COVID-19 Patients Revealed Using CT Pulmonary Angiography: A Predictable Complication? 62
33778084 2021
5
Peripheral ameloblastic fibrodentinoma in a 3-year-old boy: Report of an unusual and rare case. 62
29731567 2018
6
Progressive Decrease of Peripapillary Angioflow Vessel Density During Structural and Visual Field Progression in Early Primary Open-angle Glaucoma. 62
28557829 2017
7
Relationship Between OCT Angiography Temporal Peripapillary Vessel-Density and Octopus Perimeter Paracentral Cluster Mean Defect. 62
28169920 2017
8
Relationship between optical coherence tomography sector peripapillary angioflow-density and Octopus visual field cluster mean defect values. 62
28152106 2017
9
Influence of Large Intraocular Pressure Reduction on Peripapillary OCT Vessel Density in Ocular Hypertensive and Glaucoma Eyes. 62
27571444 2017
10
Influence of myelinated retinal nerve fibers on retinal vessel density measurement with AngioVue OCT angiography. 62
26922060 2016
11
Vessel density calculated from OCT angiography in 3 peripapillary sectors in normal, ocular hypertensive, and glaucoma eyes. 62
26692060 2016
12
Intrasession and Between-Visit Variability of Sector Peripapillary Angioflow Vessel Density Values Measured with the Angiovue Optical Coherence Tomograph in Different Retinal Layers in Ocular Hypertension and Glaucoma. 62
27537500 2016
13
Functional Characterization of Phalaenopsis aphrodite Flowering Genes PaFT1 and PaFD. 62
26317412 2015
14
Peripheral-type ameloblastic fibrodentinoma with features of so-called "immature dentinoma". 62
23669202 2014
15
The structure of the 2[4Fe-4S] ferredoxin from Pseudomonas aeruginosa at 1.32-A resolution: comparison with other high-resolution structures of ferredoxins and contributing structural features to reduction potential values. 62
16596388 2006
16
[CT guided percutaneous drainage of retro- and extraperitoneal abscesses and fluid collection]. 62
9551116 1998
17
Calculation of the redox potentials of iron-sulfur proteins: the 2-/3-couple of [Fe4S*4Cys4] clusters in Peptococcus aerogenes ferredoxin, Azotobacter vinelandii ferredoxin I, and Chromatium vinosum high-potential iron protein. 62
8086408 1994
18
Study of serum zinc in neonates and their mothers in Shimla hills (Himachal Pradesh). 62
7744458 1994
19
Azotobacter vinelandii ferredoxin I. Alteration of individual surface charges and the [4FE-4S]2+/+ cluster reduction potential. 62
8132582 1994
20
Structure at pH 6.5 of ferredoxin I from Azotobacter vinelandii at 2.3 A resolution. 62
15299532 1993
21
[Balloon occlusion pulmonary angiography and anticoagulant-antithrombotic therapy in ARDS-associated pulmonary vascular thrombosis]. 62
1907695 1991
22
[ARDS: circulatory factors and their evaluation]. 62
2033888 1991
23
Pulmonary microthrombosis in severe adult respiratory distress syndrome. 62
3342622 1988
24
The effect of drainage tube size on adequacy of percutaneous abscess drainage. 62
4084924 1985
25
A modified procedure for percutaneous abscess and fluid drainage using the Malecot catheter-Stamey needle technique. 62
6384231 1984

Variations for Acrofacial Dysostosis, Palagonia Type

Expression for Acrofacial Dysostosis, Palagonia Type

Search GEO for disease gene expression data for Acrofacial Dysostosis, Palagonia Type.

Pathways for Acrofacial Dysostosis, Palagonia Type

GO Terms for Acrofacial Dysostosis, Palagonia Type

Sources for Acrofacial Dysostosis, Palagonia Type

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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