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Restrictive dermopathy 2(RSDM2)

MedGen UID:
1801155
Concept ID:
C5676942
Disease or Syndrome
Synonyms: RESTRICTIVE DERMOPATHY 2, LETHAL; RSDM2
 
Gene (location): LMNA (1q22)
 
Monarch Initiative: MONDO:0030781
OMIM®: 619793

Definition

Restrictive dermopathy is a rare genodermatosis characterized mainly by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial dysmorphism (small mouth, small pinched nose and micrognathia), sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures, and an early neonatal lethal course. Liveborn children usually die within the first week of life (summary by Navarro et al., 2004). For a discussion of genetic heterogeneity of restrictive dermopathy, see RSDM1 (275210). [from OMIM]

Clinical features

From HPO
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Rectal prolapse
MedGen UID:
11151
Concept ID:
C0034888
Disease or Syndrome
Protrusion of the rectal mucous membrane through the anus.
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Gastroesophageal reflux
MedGen UID:
1368658
Concept ID:
C4317146
Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Short clavicles
MedGen UID:
96529
Concept ID:
C0426799
Congenital Abnormality
Reduced length of the clavicles.
Microretrognathia
MedGen UID:
326907
Concept ID:
C1839546
Finding
A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.
Hypoplastic facial bones
MedGen UID:
335426
Concept ID:
C1846438
Finding
Overtubulated long bones
MedGen UID:
338539
Concept ID:
C1848769
Finding
Overconstriction, or narrowness of the diaphysis and metaphysis of long bones.
Respiratory distress
MedGen UID:
96907
Concept ID:
C0476273
Sign or Symptom
Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.
Convex nasal ridge
MedGen UID:
66809
Concept ID:
C0240538
Finding
Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.
Cyanosis
MedGen UID:
1189
Concept ID:
C0010520
Sign or Symptom
Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.
Scleroderma
MedGen UID:
3770
Concept ID:
C0011644
Disease or Syndrome
A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin.
Thickened skin
MedGen UID:
66024
Concept ID:
C0241165
Finding
Laminar thickening of skin.
Fetal distress
MedGen UID:
5164
Concept ID:
C0015930
Pathologic Function
An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.
Decreased fetal movement
MedGen UID:
68618
Concept ID:
C0235659
Finding
An abnormal reduction in quantity or strength of fetal movements.
Proptosis
MedGen UID:
41917
Concept ID:
C0015300
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Leung AKC, Lam JM, Alobaida S, Leong KF, Wong AHC
Curr Pediatr Rev 2021;17(4):273-287. doi: 10.2174/1573396317666210426105045. PMID: 33902423
Moore ZE, Patton D
Cochrane Database Syst Rev 2019 Jan 31;1(1):CD006471. doi: 10.1002/14651858.CD006471.pub4. PMID: 30702158Free PMC Article
Jull AB, Cullum N, Dumville JC, Westby MJ, Deshpande S, Walker N
Cochrane Database Syst Rev 2015 Mar 6;2015(3):CD005083. doi: 10.1002/14651858.CD005083.pub4. PMID: 25742878Free PMC Article

Recent clinical studies

Etiology

Singh M, Wambua S, Lee SI, Okoth K, Wang Z, Fazla F, Fayaz A, Eastwood KA, Nelson-Piercy C, Nirantharakumar K, Crowe F; MuM-PreDiCT
Lancet 2023 Nov;402 Suppl 1:S84. doi: 10.1016/S0140-6736(23)02128-1. PMID: 37997130
Khan A, Adalsteinsson J, Whitaker-Worth DL
Clin Dermatol 2022 Mar-Apr;40(2):135-144. Epub 2021 Oct 27 doi: 10.1016/j.clindermatol.2021.10.006. PMID: 34876306
Zhang J, Lei Z, Xu C, Zhao J, Kang X
Clin Rev Allergy Immunol 2021 Dec;61(3):282-298. Epub 2021 Jul 17 doi: 10.1007/s12016-021-08859-0. PMID: 34273058Free PMC Article
Leung AKC, Lam JM, Alobaida S, Leong KF, Wong AHC
Curr Pediatr Rev 2021;17(4):273-287. doi: 10.2174/1573396317666210426105045. PMID: 33902423
Domínguez O, Plaza AM, Alvaro M
Curr Pediatr Rev 2020;16(2):115-122. doi: 10.2174/1573396315666191111122436. PMID: 31713486

Diagnosis

Gibson A, Deshpande P, Campbell CN, Krantz MS, Mukherjee E, Mockenhaupt M, Pirmohamed M, Palubinsky AM, Phillips EJ
J Allergy Clin Immunol 2023 Feb;151(2):289-300.e4. doi: 10.1016/j.jaci.2022.12.005. PMID: 36740326Free PMC Article
Cavazzana I, Vojinovic T, Airo' P, Fredi M, Ceribelli A, Pedretti E, Lazzaroni MG, Garrafa E, Franceschini F
Clin Rev Allergy Immunol 2023 Jun;64(3):412-430. Epub 2022 Jun 18 doi: 10.1007/s12016-022-08946-w. PMID: 35716254Free PMC Article
Leung AKC, Lam JM, Alobaida S, Leong KF, Wong AHC
Curr Pediatr Rev 2021;17(4):273-287. doi: 10.2174/1573396317666210426105045. PMID: 33902423
Leung AKC, Lam JM, Leong KF, Leung AAM, Wong AHC, Hon KL
Recent Pat Inflamm Allergy Drug Discov 2020;14(2):146-155. doi: 10.2174/1872213X14666200810152246. PMID: 32778043
Domínguez O, Plaza AM, Alvaro M
Curr Pediatr Rev 2020;16(2):115-122. doi: 10.2174/1573396315666191111122436. PMID: 31713486

Therapy

Leung AKC, Lam JM, Alobaida S, Leong KF, Wong AHC
Curr Pediatr Rev 2021;17(4):273-287. doi: 10.2174/1573396317666210426105045. PMID: 33902423
Leung AKC, Lam JM, Leong KF, Leung AAM, Wong AHC, Hon KL
Recent Pat Inflamm Allergy Drug Discov 2020;14(2):146-155. doi: 10.2174/1872213X14666200810152246. PMID: 32778043
Gillespie BM, Walker RM, Latimer SL, Thalib L, Whitty JA, McInnes E, Chaboyer WP
Cochrane Database Syst Rev 2020 Jun 2;6(6):CD009958. doi: 10.1002/14651858.CD009958.pub3. PMID: 32484259Free PMC Article
Porter-Armstrong AP, Moore ZE, Bradbury I, McDonough S
Cochrane Database Syst Rev 2018 May 25;5(5):CD011620. doi: 10.1002/14651858.CD011620.pub2. PMID: 29800486Free PMC Article
Ezzo J, Manheimer E, McNeely ML, Howell DM, Weiss R, Johansson KI, Bao T, Bily L, Tuppo CM, Williams AF, Karadibak D
Cochrane Database Syst Rev 2015 May 21;2015(5):CD003475. doi: 10.1002/14651858.CD003475.pub2. PMID: 25994425Free PMC Article

Prognosis

Cavazzana I, Vojinovic T, Airo' P, Fredi M, Ceribelli A, Pedretti E, Lazzaroni MG, Garrafa E, Franceschini F
Clin Rev Allergy Immunol 2023 Jun;64(3):412-430. Epub 2022 Jun 18 doi: 10.1007/s12016-022-08946-w. PMID: 35716254Free PMC Article
Leung AKC, Lam JM, Leong KF, Leung AAM, Wong AHC, Hon KL
Recent Pat Inflamm Allergy Drug Discov 2020;14(2):146-155. doi: 10.2174/1872213X14666200810152246. PMID: 32778043
Porter-Armstrong AP, Moore ZE, Bradbury I, McDonough S
Cochrane Database Syst Rev 2018 May 25;5(5):CD011620. doi: 10.1002/14651858.CD011620.pub2. PMID: 29800486Free PMC Article
Dumville JC, Lipsky BA, Hoey C, Cruciani M, Fiscon M, Xia J
Cochrane Database Syst Rev 2017 Jun 14;6(6):CD011038. doi: 10.1002/14651858.CD011038.pub2. PMID: 28613416Free PMC Article
Michalek IM, Loring B, John SM
J Eur Acad Dermatol Venereol 2017 Feb;31(2):205-212. Epub 2016 Aug 30 doi: 10.1111/jdv.13854. PMID: 27573025

Clinical prediction guides

Cavazzana I, Vojinovic T, Airo' P, Fredi M, Ceribelli A, Pedretti E, Lazzaroni MG, Garrafa E, Franceschini F
Clin Rev Allergy Immunol 2023 Jun;64(3):412-430. Epub 2022 Jun 18 doi: 10.1007/s12016-022-08946-w. PMID: 35716254Free PMC Article
Wei J, Zhu J, Xu H, Zhou D, Elder JT, Tsoi LC, Patrick MT, Li Y
Br J Dermatol 2022 Nov;187(5):684-691. Epub 2022 Aug 16 doi: 10.1111/bjd.21718. PMID: 35764530
Leung AKC, Lam JM, Alobaida S, Leong KF, Wong AHC
Curr Pediatr Rev 2021;17(4):273-287. doi: 10.2174/1573396317666210426105045. PMID: 33902423
Leung AKC, Lam JM, Leong KF, Leung AAM, Wong AHC, Hon KL
Recent Pat Inflamm Allergy Drug Discov 2020;14(2):146-155. doi: 10.2174/1872213X14666200810152246. PMID: 32778043
Porter-Armstrong AP, Moore ZE, Bradbury I, McDonough S
Cochrane Database Syst Rev 2018 May 25;5(5):CD011620. doi: 10.1002/14651858.CD011620.pub2. PMID: 29800486Free PMC Article

Recent systematic reviews

Cerezo-Cayuelas M, Pérez-Silva A, Serna-Muñoz C, Vicente A, Martínez-Beneyto Y, Cabello-Malagón I, Ortiz-Ruiz AJ
Orphanet J Rare Dis 2022 Oct 17;17(1):376. doi: 10.1186/s13023-022-02533-0. PMID: 36253866Free PMC Article
Leszczynski R, da Silva CA, Pinto ACPN, Kuczynski U, da Silva EM
Cochrane Database Syst Rev 2022 Sep 26;9(9):CD011642. doi: 10.1002/14651858.CD011642.pub2. PMID: 36161591Free PMC Article
Kvaskoff M, Mahamat-Saleh Y, Farland LV, Shigesi N, Terry KL, Harris HR, Roman H, Becker CM, As-Sanie S, Zondervan KT, Horne AW, Missmer SA
Hum Reprod Update 2021 Feb 19;27(2):393-420. doi: 10.1093/humupd/dmaa045. PMID: 33202017
Michalek IM, Loring B, John SM
J Eur Acad Dermatol Venereol 2017 Feb;31(2):205-212. Epub 2016 Aug 30 doi: 10.1111/jdv.13854. PMID: 27573025
Ezzo J, Manheimer E, McNeely ML, Howell DM, Weiss R, Johansson KI, Bao T, Bily L, Tuppo CM, Williams AF, Karadibak D
Cochrane Database Syst Rev 2015 May 21;2015(5):CD003475. doi: 10.1002/14651858.CD003475.pub2. PMID: 25994425Free PMC Article

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