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Roifman syndrome(RFMN)

MedGen UID:
375801
Concept ID:
C1846059
Disease or Syndrome
Synonyms: RFMN; Spondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency; SPONDYLOEPIPHYSEAL DYSPLASIA, RETINAL DYSTROPHY, AND ANTIBODY DEFICIENCY
SNOMED CT: Spondyloepiphyseal dysplasia, retinal dystrophy, immunodeficiency syndrome (773404000); Roifman syndrome (773404000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): RNU4ATAC (2q14.2)
 
Monarch Initiative: MONDO:0014722
OMIM®: 616651
Orphanet: ORPHA353298

Definition

Roifman syndrome is a multisystem disorder characterized by growth retardation, spondyloepiphyseal dysplasia, retinal dystrophy, distinctive facial dysmorphism, and immunodeficiency (summary by de Vries et al., 2006). [from OMIM]

Clinical features

From HPO
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Single transverse palmar crease
MedGen UID:
96108
Concept ID:
C0424731
Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
Short toe
MedGen UID:
322858
Concept ID:
C1836195
Finding
A toe that appears disproportionately short compared to the foot.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Short digit
MedGen UID:
893063
Concept ID:
C4023124
Finding
One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Noncompaction cardiomyopathy
MedGen UID:
326592
Concept ID:
C1839832
Disease or Syndrome
A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber.
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.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Spondyloepiphyseal dysplasia
MedGen UID:
20916
Concept ID:
C0038015
Finding
A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).
Hip contracture
MedGen UID:
140815
Concept ID:
C0409354
Acquired Abnormality
Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.
Irregular vertebral endplates
MedGen UID:
331233
Concept ID:
C1842153
Finding
An irregular surface of the vertebral end plates, which are normally relatively smooth.
Irregular femoral epiphysis
MedGen UID:
340592
Concept ID:
C1850658
Finding
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Biconvex vertebral bodies
MedGen UID:
355775
Concept ID:
C1866675
Finding
Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Recurrent pneumonia
MedGen UID:
195802
Concept ID:
C0694550
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Eosinophilia
MedGen UID:
41824
Concept ID:
C0014457
Disease or Syndrome
Increased count of eosinophils in the blood.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Lymphadenopathy
MedGen UID:
96929
Concept ID:
C0497156
Disease or Syndrome
Enlargment (swelling) of a lymph node.
Recurrent otitis media
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Narrow nose
MedGen UID:
98086
Concept ID:
C0426422
Finding
Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.
Underdeveloped nasal alae
MedGen UID:
322332
Concept ID:
C1834055
Congenital Abnormality
Thinned, deficient, or excessively arched ala nasi.
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Long palpebral fissure
MedGen UID:
340300
Concept ID:
C1849340
Finding
Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Thin upper lip vermilion
MedGen UID:
355352
Concept ID:
C1865017
Finding
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Downturned corners of mouth
MedGen UID:
356471
Concept ID:
C1866195
Anatomical Abnormality
A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.
Prominent eyelashes
MedGen UID:
869033
Concept ID:
C4023450
Finding
Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly.
Premature birth
MedGen UID:
57721
Concept ID:
C0151526
Pathologic Function
The birth of a baby of less than 37 weeks of gestational age.
Retinal dystrophy
MedGen UID:
208903
Concept ID:
C0854723
Finding
Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRoifman syndrome
Follow this link to review classifications for Roifman syndrome in Orphanet.

Professional guidelines

PubMed

Shelihan I, Ehresmann S, Magnani C, Forzano F, Baldo C, Brunetti-Pierri N, Campeau PM
Hum Genet 2018 Dec;137(11-12):905-909. Epub 2018 Oct 27 doi: 10.1007/s00439-018-1950-8. PMID: 30368667

Recent clinical studies

Etiology

Greene D; NIHR BioResource, Richardson S, Turro E
Am J Hum Genet 2017 Jul 6;101(1):104-114. Epub 2017 Jun 29 doi: 10.1016/j.ajhg.2017.05.015. PMID: 28669401Free PMC Article
Putoux A, Alqahtani A, Pinson L, Paulussen AD, Michel J, Besson A, Mazoyer S, Borg I, Nampoothiri S, Vasiljevic A, Uwineza A, Boggio D, Champion F, de Die-Smulders CE, Gardeitchik T, van Putten WK, Perez MJ, Musizzano Y, Razavi F, Drunat S, Verloes A, Hennekam R, Guibaud L, Alix E, Sanlaville D, Lesca G, Edery P
Clin Genet 2016 Dec;90(6):550-555. Epub 2016 Jun 2 doi: 10.1111/cge.12781. PMID: 27040866

Diagnosis

Ballios BG, Mandola A, Tayyib A, Tumber A, Garkaby J, Vong L, Heon E, Roifman CM, Vincent A
Eye (Lond) 2023 Dec;37(18):3734-3742. Epub 2023 May 24 doi: 10.1038/s41433-023-02581-1. PMID: 37225827Free PMC Article
Tabib A, Richmond CM, McGaughran J
Am J Med Genet A 2023 Apr;191(4):1094-1100. Epub 2023 Jan 9 doi: 10.1002/ajmg.a.63110. PMID: 36622817
Clifford D, Moloney F, Leahy TR, Murray DM
BMJ Case Rep 2022 Apr 21;15(4) doi: 10.1136/bcr-2022-249109. PMID: 35450878Free PMC Article
Bogaert DJ, Dullaers M, Kuehn HS, Leroy BP, Niemela JE, De Wilde H, De Schryver S, De Bruyne M, Coppieters F, Lambrecht BN, De Baets F, Rosenzweig SD, De Baere E, Haerynck F
Sci Rep 2017 Jun 16;7(1):3702. doi: 10.1038/s41598-017-02434-4. PMID: 28623346Free PMC Article
de Vries PJ, McCartney DL, McCartney E, Woolf D, Wozencroft D
J Intellect Disabil Res 2006 Sep;50(Pt 9):690-6. doi: 10.1111/j.1365-2788.2006.00817.x. PMID: 16901296

Prognosis

Greene D; NIHR BioResource, Richardson S, Turro E
Am J Hum Genet 2017 Jul 6;101(1):104-114. Epub 2017 Jun 29 doi: 10.1016/j.ajhg.2017.05.015. PMID: 28669401Free PMC Article

Clinical prediction guides

Ballios BG, Mandola A, Tayyib A, Tumber A, Garkaby J, Vong L, Heon E, Roifman CM, Vincent A
Eye (Lond) 2023 Dec;37(18):3734-3742. Epub 2023 May 24 doi: 10.1038/s41433-023-02581-1. PMID: 37225827Free PMC Article
Shelihan I, Ehresmann S, Magnani C, Forzano F, Baldo C, Brunetti-Pierri N, Campeau PM
Hum Genet 2018 Dec;137(11-12):905-909. Epub 2018 Oct 27 doi: 10.1007/s00439-018-1950-8. PMID: 30368667
Heremans J, Garcia-Perez JE, Turro E, Schlenner SM, Casteels I, Collin R, de Zegher F, Greene D, Humblet-Baron S, Lesage S, Matthys P, Penkett CJ, Put K, Stirrups K; National Institute for Health Research BioResource, Thys C, Van Geet C, Van Nieuwenhove E, Wouters C, Meyts I, Freson K, Liston A
J Allergy Clin Immunol 2018 Aug;142(2):630-646. Epub 2018 Jan 31 doi: 10.1016/j.jaci.2017.11.061. PMID: 29391254
Greene D; NIHR BioResource, Richardson S, Turro E
Am J Hum Genet 2017 Jul 6;101(1):104-114. Epub 2017 Jun 29 doi: 10.1016/j.ajhg.2017.05.015. PMID: 28669401Free PMC Article

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