Dwarfism with Stiff Joints and Ocular Abnormalities disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Dwarfism with Stiff Joints and Ocular Abnormalities

MalaCards integrated aliases for Dwarfism with Stiff Joints and Ocular Abnormalities:

Name: Dwarfism with Stiff Joints and Ocular Abnormalities ⁵⁶

Moore-Federman Syndrome ⁵⁶ ²⁹

Dwarfism Stiff Joint Ocular Abnormalities ⁷¹

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant
? same as acromicric dysplasia (102370)

HPO:

³¹

dwarfism with stiff joints and ocular abnormalities:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 127200

MedGen ⁴¹ C0265349

SNOMED-CT via HPO ⁶⁸ 128306009 17417006 193570009 more

UMLS ⁷¹ C0265349

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Summaries for Dwarfism with Stiff Joints and Ocular Abnormalities

MalaCards based summary : Dwarfism with Stiff Joints and Ocular Abnormalities, also known as moore-federman syndrome, is related to glaucoma, ectopia, microspherophakia, stiff joints and short stature syndrome and acromicric dysplasia. Affiliated tissues include bone and skin, and related phenotypes are cataract and joint stiffness

More information from OMIM: 127200

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Related Diseases for Dwarfism with Stiff Joints and Ocular Abnormalities

Diseases related to Dwarfism with Stiff Joints and Ocular Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	glaucoma, ectopia, microspherophakia, stiff joints and short stature syndrome	11.7
2	acromicric dysplasia	10.4
3	cataract	10.4

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Symptoms & Phenotypes for Dwarfism with Stiff Joints and Ocular Abnormalities

Human phenotypes related to Dwarfism with Stiff Joints and Ocular Abnormalities:

³¹ (show all 12)

#	Description	HPO Source Accession
1	cataract ³¹	HP:0000518
2	joint stiffness ³¹	HP:0001387
3	thickened skin ³¹	HP:0001072
4	glaucoma ³¹	HP:0000501
5	retinal detachment ³¹	HP:0000541
6	disproportionate short-limb short stature ³¹	HP:0008873
7	short lower limbs ³¹	HP:0006385
8	severe short stature ³¹	HP:0003510
9	short phalanx of finger ³¹	HP:0009803
10	hypermetropia ³¹	HP:0000540
11	lower limb undergrowth ³¹	HP:0009816
12	delayed ossification of carpal bones ³¹	HP:0001216

Symptoms via clinical synopsis from OMIM:

⁵⁶

Eyes:
cataract
glaucoma
retinal detachment
hyperopia

Limbs:
short fingers
short legs

Skin:
thickened forearm skin

Growth:
short-limbed dwarfism
disproportionate dwarfism

Joints:
stiff joints

Radiology:
delayed carpal bone age

Clinical features from OMIM:

127200

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Drugs & Therapeutics for Dwarfism with Stiff Joints and Ocular Abnormalities

Search Clinical Trials , NIH Clinical Center for Dwarfism with Stiff Joints and Ocular Abnormalities

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Genetic Tests for Dwarfism with Stiff Joints and Ocular Abnormalities

Genetic tests related to Dwarfism with Stiff Joints and Ocular Abnormalities:

#	Genetic test	Affiliating Genes
1	Moore-Federman Syndrome ²⁹

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Anatomical Context for Dwarfism with Stiff Joints and Ocular Abnormalities

MalaCards organs/tissues related to Dwarfism with Stiff Joints and Ocular Abnormalities:

⁴⁰

Bone, Skin

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Publications for Dwarfism with Stiff Joints and Ocular Abnormalities

Articles related to Dwarfism with Stiff Joints and Ocular Abnormalities:

#	Title	Authors	PMID	Year
1	Moore-Federman syndrome and acromicric dysplasia: are they the same entity? ⁵⁶ ⁶¹	Winter RM...Baraitser M	2732993	1989
2	FAMILIAL DWARFISM AND "STIFF JOINTS". ⁵⁶	MOORE WT...FEDERMAN DD	14272366	1965
3	Moore Federman syndrome: A rare cause of pseudoscleroderma. ⁶¹	Muhammed K...Nandakumar G	17675736	2007
4	Acromicric dysplasia and geleophysic dysplasia: similarities and differences. ⁶¹	Hennekam RC...Oorthuys JW	8777926	1996
5	Reviving the Moore-Federman syndrome. ⁶¹	Fell JM...Stanhope R	8423583	1993
6	Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of Weill-Marchesani syndromes. ⁶¹	Verloes A...Dodinval P	1519650	1992

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Genes for Dwarfism with Stiff Joints and Ocular Abnormalities

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Variations for Dwarfism with Stiff Joints and Ocular Abnormalities

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Expression for Dwarfism with Stiff Joints and Ocular Abnormalities

Search GEO for disease gene expression data for Dwarfism with Stiff Joints and Ocular Abnormalities.

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Pathways for Dwarfism with Stiff Joints and Ocular Abnormalities

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GO Terms for Dwarfism with Stiff Joints and Ocular Abnormalities

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