Acrofacial Dysostosis, Palagonia Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other congenital malformations of skull and face bones

Mandibulofacial dysostosis

Orphanet: ⁵⁸

Rare bone diseases

Developmental anomalies during embryogenesis

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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

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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
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:

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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)

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Drugs & Therapeutics for Acrofacial Dysostosis, Palagonia Type

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

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Genetic Tests for Acrofacial Dysostosis, Palagonia Type

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Anatomical Context for Acrofacial Dysostosis, Palagonia Type

Organs/tissues related to Acrofacial Dysostosis, Palagonia Type:

MalaCards : Bone, Skin

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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	Sorge G...Opitz JM	9098488	1997
2	A reactive oxygen species-replenishing coordination polymer nanomedicine disrupts redox homeostasis and induces concurrent apoptosis-ferroptosis for combinational cancer therapy. ⁶²	Zhang Z...He B	35926781	2022
3	Applying Image-Based Food Recognition Systems On Dietary Assessment: a Systematic Review. ⁶²	Dalakleidi KV...Papadimitriou K	35803496	2022
4	Pulmonary Artery Filling Defects in COVID-19 Patients Revealed Using CT Pulmonary Angiography: A Predictable Complication? ⁶²	Scardapane A...Saracino A	33778084	2021
5	Peripheral ameloblastic fibrodentinoma in a 3-year-old boy: Report of an unusual and rare case. ⁶²	Kaur V...Tilakraj TN	29731567	2018
6	Progressive Decrease of Peripapillary Angioflow Vessel Density During Structural and Visual Field Progression in Early Primary Open-angle Glaucoma. ⁶²	Hollo G	28557829	2017
7	Relationship Between OCT Angiography Temporal Peripapillary Vessel-Density and Octopus Perimeter Paracentral Cluster Mean Defect. ⁶²	Hollo G	28169920	2017
8	Relationship between optical coherence tomography sector peripapillary angioflow-density and Octopus visual field cluster mean defect values. ⁶²	Hollo G	28152106	2017
9	Influence of Large Intraocular Pressure Reduction on Peripapillary OCT Vessel Density in Ocular Hypertensive and Glaucoma Eyes. ⁶²	Hollo G	27571444	2017
10	Influence of myelinated retinal nerve fibers on retinal vessel density measurement with AngioVue OCT angiography. ⁶²	Hollo G	26922060	2016
11	Vessel density calculated from OCT angiography in 3 peripapillary sectors in normal, ocular hypertensive, and glaucoma eyes. ⁶²	Hollo G	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	Hollo G	27537500	2016
13	Functional Characterization of Phalaenopsis aphrodite Flowering Genes PaFT1 and PaFD. ⁶²	Jang S...Schmelzer E	26317412	2015
14	Peripheral-type ameloblastic fibrodentinoma with features of so-called "immature dentinoma". ⁶²	Minamizato T...Asahina I	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	Giastas P...Mavridis IM	16596388	2006
16	[CT guided percutaneous drainage of retro- and extraperitoneal abscesses and fluid collection]. ⁶²	Risse JH...Gunther RW	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	Jensen GM...Stephens PJ	8086408	1994
18	Study of serum zinc in neonates and their mothers in Shimla hills (Himachal Pradesh). ⁶²	Bahl L...Pathak RM	7744458	1994
19	Azotobacter vinelandii ferredoxin I. Alteration of individual surface charges and the [4FE-4S]2+/+ cluster reduction potential. ⁶²	Shen B...Burgess BK	8132582	1994
20	Structure at pH 6.5 of ferredoxin I from Azotobacter vinelandii at 2.3 A resolution. ⁶²	Merritt EA...Orme-Johnson WH	15299532	1993
21	[Balloon occlusion pulmonary angiography and anticoagulant-antithrombotic therapy in ARDS-associated pulmonary vascular thrombosis]. ⁶²	Miyazawa T...Furukawa N	1907695	1991
22	[ARDS: circulatory factors and their evaluation]. ⁶²	Imamura T	2033888	1991
23	Pulmonary microthrombosis in severe adult respiratory distress syndrome. ⁶²	Vesconi S...Gattinoni L	3342622	1988
24	The effect of drainage tube size on adequacy of percutaneous abscess drainage. ⁶²	Gobien RP...Reines HD	4084924	1985
25	A modified procedure for percutaneous abscess and fluid drainage using the Malecot catheter-Stamey needle technique. ⁶²	Hickey NM...Tao HH	6384231	1984

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Genes for Acrofacial Dysostosis, Palagonia Type

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Variations for Acrofacial Dysostosis, Palagonia Type

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Expression for Acrofacial Dysostosis, Palagonia Type

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

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GO Terms for Acrofacial Dysostosis, Palagonia Type

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PAFD MCID: ACR107 MIFTS: 26	Acrofacial Dysostosis, Palagonia Type (PAFD) Categories: Bone diseases, Fetal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Acrofacial Dysostosis, Palagonia Type (PAFD)

Aliases & Classifications for Acrofacial Dysostosis, Palagonia Type

MalaCards integrated aliases for Acrofacial Dysostosis, Palagonia Type:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

OMIM®:

Classifications:

External Ids:

Summaries for Acrofacial Dysostosis, Palagonia Type

Related Diseases for Acrofacial Dysostosis, Palagonia Type

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

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

Symptoms & Phenotypes for Acrofacial Dysostosis, Palagonia Type

Human phenotypes related to Acrofacial Dysostosis, Palagonia Type:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics 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:

Publications for Acrofacial Dysostosis, Palagonia Type

Articles related to Acrofacial Dysostosis, Palagonia Type:

Genes for Acrofacial Dysostosis, Palagonia Type

Variations for Acrofacial Dysostosis, Palagonia Type

Expression for Acrofacial Dysostosis, Palagonia Type

Pathways for Acrofacial Dysostosis, Palagonia Type

GO Terms for Acrofacial Dysostosis, Palagonia Type

Sources for Acrofacial Dysostosis, Palagonia Type