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Restrictive dermopathy information


Restrictive dermopathy
Other namesHyperkeratosis-contracture syndrome, Lethal restrictive dermopathy
Restrictive dermopathy is inherited in an autosomal recessive manner[1]
SpecialtyMedical genetics Edit this on Wikidata

Restrictive dermopathy (RD) is a rare, lethal autosomal recessive skin condition characterized by syndromic facies, tight skin, sparse or absent eyelashes, and secondary joint changes.[2]: 563 

  1. ^ "OMIM Entry - # 275210 - RESTRICTIVE DERMOPATHY, LETHAL". omim.org. Retrieved 7 August 2017.
  2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.

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Restrictive dermopathy

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Renfield syndrome Renpenning's syndrome Restless legs syndrome Restrictive dermopathy Retinoic acid syndrome Retirement syndrome Rett syndrome Reversible...

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Exophthalmos

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syndromes DNA repair Lamin A/C Hutchinson–Gilford progeria syndrome Restrictive dermopathy Other/related disorders Li–Fraumeni syndrome Rapadilino syndrome...

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Cellular senescence

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pigmentosum Trichothiodystrophy Xeroderma pigmentosum-Cockayne syndrome Restrictive dermopathy Mandibuloacral dysplasia Fanconi anaemia Seckel syndrome Ataxia...

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syndromes DNA repair Lamin A/C Hutchinson–Gilford progeria syndrome Restrictive dermopathy Other/related disorders Li–Fraumeni syndrome Rapadilino syndrome...

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Xeroderma pigmentosum

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dystrophy - A muscle wasting disease Progeria - Premature aging Restrictive dermopathy - A disease associated with extremely tight skin and other severe...

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syndromes DNA repair Lamin A/C Hutchinson–Gilford progeria syndrome Restrictive dermopathy Other/related disorders Li–Fraumeni syndrome Rapadilino syndrome...

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Cockayne syndrome

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syndromes DNA repair Lamin A/C Hutchinson–Gilford progeria syndrome Restrictive dermopathy Other/related disorders Li–Fraumeni syndrome Rapadilino syndrome...

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Laminopathy

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progeroid appearance, and generalized lipodystrophy to infant-lethal restrictive dermopathy.[citation needed] In the case of autosomal dominant leukodystrophy...

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acid storage disease) Relapsing linear acantholytic dermatosis Restrictive dermopathy Rhizomelic chondrodysplasia punctata (autosomal recessive chondrodysplasia...

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syndromes DNA repair Lamin A/C Hutchinson–Gilford progeria syndrome Restrictive dermopathy Other/related disorders Li–Fraumeni syndrome Rapadilino syndrome...

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syndromes DNA repair Lamin A/C Hutchinson–Gilford progeria syndrome Restrictive dermopathy Other/related disorders Li–Fraumeni syndrome Rapadilino syndrome...

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dysplasia; 208540; NPHP3 Renpenning syndrome; 309500; PQBP1 Restrictive dermopathy, lethal; 275210; ZMPSTE24 Reticular dysgenesis; 267500; AK2 Retinal...

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pigmentosa XPG DNA endonuclease Xeroderma pigmentosa Xeroderma pigmentosum–Cockayne syndrome ZMPSTE24 Köbberling–Dunnigan syndrome Restrictive dermopathy...

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