U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Restrictive dermopathy 1(RSDM1)

MedGen UID:
1812447
Concept ID:
C5676878
Disease or Syndrome
Synonyms: RESTRICTIVE DERMOPATHY 1, LETHAL; RSDM1
 
Gene (location): ZMPSTE24 (1p34.2)
 
Monarch Initiative: MONDO:0800042
OMIM®: 275210

Definition

A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34. [from MONDO]

Clinical features

From HPO
Ureteral duplication
MedGen UID:
66380
Concept ID:
C0221365
Congenital Abnormality
A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.
Hypospadias
MedGen UID:
163083
Concept ID:
C0848558
Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Congenital vertical talus
MedGen UID:
66821
Concept ID:
C0240912
Congenital Abnormality
Congenital vertical talus (CVT), also known as 'rocker-bottom foot' deformity, is a dislocation of the talonavicular joint characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence (summary by Levinsohn et al., 2004). The condition is transmitted in an autosomal dominant pattern of inheritance, and sometimes shows incomplete penetrance and variable expressivity. There may be a broad spectrum of deformities, including flatfoot, talipes equinovarus (TEV or clubfoot), cavus foot, metatarsus adductus, and even hypoplasia of the tibia (summary by Dobbs et al., 2006).
Osteolytic defects of the distal phalanges of the hand
MedGen UID:
341480
Concept ID:
C1849547
Finding
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
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.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Ankylosis
MedGen UID:
8101
Concept ID:
C0003090
Pathologic Function
A reduction of joint mobility resulting from changes involving the articular surfaces.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Congenital pseudoarthrosis of the clavicle
MedGen UID:
75577
Concept ID:
C0265565
Congenital Abnormality
The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle.
Flexion contracture
MedGen UID:
83069
Concept ID:
C0333068
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Short clavicles
MedGen UID:
96529
Concept ID:
C0426799
Congenital Abnormality
Reduced length of the clavicles.
Large fontanelles
MedGen UID:
105329
Concept ID:
C0456132
Finding
In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Thin clavicles
MedGen UID:
659167
Concept ID:
C0575535
Finding
Abnormally reduced diameter (cross section) of the clavicles.
Decreased calvarial ossification
MedGen UID:
322270
Concept ID:
C1833762
Finding
Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).
Increased anterioposterior diameter of thorax
MedGen UID:
336414
Concept ID:
C1848760
Finding
Overtubulated long bones
MedGen UID:
338539
Concept ID:
C1848769
Finding
Overconstriction, or narrowness of the diaphysis and metaphysis of long bones.
Wide anterior fontanel
MedGen UID:
400926
Concept ID:
C1866134
Finding
Enlargement of the anterior fontanelle with respect to age-dependent norms.
Limb joint contracture
MedGen UID:
369611
Concept ID:
C1969879
Anatomical Abnormality
A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.
Temporomandibular joint ankylosis
MedGen UID:
444041
Concept ID:
C2931375
Disease or Syndrome
Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening.
Pulmonary hypoplasia
MedGen UID:
78574
Concept ID:
C0265783
Congenital Abnormality
A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.
Blepharophimosis
MedGen UID:
2670
Concept ID:
C0005744
Congenital Abnormality
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Choanal atresia
MedGen UID:
3395
Concept ID:
C0008297
Congenital Abnormality
Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.
Entropion
MedGen UID:
41813
Concept ID:
C0014390
Disease or Syndrome
An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital.
Narrow mouth
MedGen UID:
44435
Concept ID:
C0026034
Congenital Abnormality
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
Natal tooth
MedGen UID:
10268
Concept ID:
C0027443
Finding
A tooth present at birth or erupting within the first month of life.
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.
Short palpebral fissure
MedGen UID:
98067
Concept ID:
C0423112
Finding
Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.
Submucous cleft hard palate
MedGen UID:
98472
Concept ID:
C0432103
Congenital Abnormality
Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.
Sparse eyebrow
MedGen UID:
371332
Concept ID:
C1832446
Finding
Decreased density/number of eyebrow hairs.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Narrow nasal ridge
MedGen UID:
373404
Concept ID:
C1837761
Finding
Decreased width of the nasal ridge.
Aplasia/Hypoplasia of the eyebrow
MedGen UID:
892938
Concept ID:
C4021956
Finding
Absence or underdevelopment of the eyebrow.
Scaling skin
MedGen UID:
472970
Concept ID:
C0237849
Finding
Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.
Thin skin
MedGen UID:
140848
Concept ID:
C0423757
Finding
Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
Short nail
MedGen UID:
140850
Concept ID:
C0423808
Finding
Decreased length of nail.
Absent eyelashes
MedGen UID:
334299
Concept ID:
C1843005
Congenital Abnormality
Lack of eyelashes.
Sparse eyelashes
MedGen UID:
375151
Concept ID:
C1843300
Finding
Decreased density/number of eyelashes.
Prominent superficial blood vessels
MedGen UID:
376437
Concept ID:
C1848771
Finding
Epidermal hyperkeratosis
MedGen UID:
338541
Concept ID:
C1848773
Finding
Skin erosion
MedGen UID:
854383
Concept ID:
C3887524
Disease or Syndrome
A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.
Premature rupture of membranes
MedGen UID:
8826
Concept ID:
C0015944
Pathologic Function
Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor.
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Oligohydramnios
MedGen UID:
86974
Concept ID:
C0079924
Pathologic Function
Diminished amniotic fluid volume in pregnancy.
Premature birth
MedGen UID:
57721
Concept ID:
C0151526
Pathologic Function
The birth of a baby of less than 37 weeks of gestational age.
Decreased fetal movement
MedGen UID:
68618
Concept ID:
C0235659
Finding
An abnormal reduction in quantity or strength of fetal movements.
Short umbilical cord
MedGen UID:
78620
Concept ID:
C0266786
Finding
Decreased length of the umbilical cord.
Hydropic placenta
MedGen UID:
542630
Concept ID:
C0270254
Disease or Syndrome
An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement.
Spontaneous chorioamniotic separation
MedGen UID:
1813058
Concept ID:
C5676638
Pathologic Function
Persistence separation of the chorionic and amnionic membranes after the 16th week of gestation (not as a result of a procedure such as amniocentesis).
Adrenal hypoplasia
MedGen UID:
337539
Concept ID:
C1846223
Pathologic Function
Developmental hypoplasia of the adrenal glands.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

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
Fistarol SK, Itin PH
Am J Clin Dermatol 2013 Feb;14(1):27-47. doi: 10.1007/s40257-012-0006-4. PMID: 23329078Free 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
Mitjà O, Ogoina D, Titanji BK, Galvan C, Muyembe JJ, Marks M, Orkin CM
Lancet 2023 Jan 7;401(10370):60-74. Epub 2022 Nov 17 doi: 10.1016/S0140-6736(22)02075-X. PMID: 36403582Free 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
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

Diagnosis

Mitjà O, Ogoina D, Titanji BK, Galvan C, Muyembe JJ, Marks M, Orkin CM
Lancet 2023 Jan 7;401(10370):60-74. Epub 2022 Nov 17 doi: 10.1016/S0140-6736(22)02075-X. PMID: 36403582Free 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
Leung AKC, Lam JM, Leong KF, Hon KL, Barankin B, Leung AAM, Wong AHC
Recent Pat Inflamm Allergy Drug Discov 2020;14(1):32-45. doi: 10.2174/1872213X13666191026090713. PMID: 31738146Free PMC Article

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
Leung AKC, Hon KL, Leong KF, Barankin B, Lam JM
Recent Pat Inflamm Allergy Drug Discov 2020;14(1):58-68. doi: 10.2174/1872213X14666200106145624. PMID: 31906842
Leung AKC, Lam JM, Leong KF, Hon KL, Barankin B, Leung AAM, Wong AHC
Recent Pat Inflamm Allergy Drug Discov 2020;14(1):32-45. doi: 10.2174/1872213X13666191026090713. PMID: 31738146Free PMC Article
Namikawa K, Yamazaki N
Curr Treat Options Oncol 2019 Jan 24;20(1):7. doi: 10.1007/s11864-019-0607-8. PMID: 30675668Free 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
Tan Y, Sun R, Liu L, Yang D, Xiang Q, Li L, Tang J, Qiu Z, Peng W, Wang Y, Ye L, Ren G, Xiang T
Theranostics 2021;11(11):5214-5231. Epub 2021 Mar 5 doi: 10.7150/thno.58322. PMID: 33859743Free 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
Levine ME, Suarez JA, Brandhorst S, Balasubramanian P, Cheng CW, Madia F, Fontana L, Mirisola MG, Guevara-Aguirre J, Wan J, Passarino G, Kennedy BK, Wei M, Cohen P, Crimmins EM, Longo VD
Cell Metab 2014 Mar 4;19(3):407-17. doi: 10.1016/j.cmet.2014.02.006. PMID: 24606898Free PMC Article

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
Leung AKC, Lam JM, Leong KF, Hon KL, Barankin B, Leung AAM, Wong AHC
Recent Pat Inflamm Allergy Drug Discov 2020;14(1):32-45. doi: 10.2174/1872213X13666191026090713. PMID: 31738146Free 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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...