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Wolcott-Rallison dysplasia

MedGen UID:
140926
Concept ID:
C0432217
Congenital Abnormality; Disease or Syndrome
Synonyms: Epiphyseal dysplasia multiple with early-onset diabetes mellitus; Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus; Wolcott Rallison syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, Orphanet
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: Wolcott-Rallison dysplasia (254066006); Wolcott-Rallison syndrome (254066006); Epiphyseal dysplasia, multiple, with early onset diabetes mellitus (254066006)
 
Gene (location): EIF2AK3 (2p11.2)
OMIM®: 226980
Orphanet: ORPHA1667

Definition

Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by permanent neonatal or early infancy insulin-dependent diabetes. Epiphyseal dysplasia, osteoporosis, and growth retardation develop at a later age. Other frequent multisystem manifestations include hepatic and renal dysfunction, mental retardation, and cardiovascular abnormalities (summary by Delepine et al., 2000). [from OMIM]

Clinical features

Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Intrauterine growth retardation
MedGen UID:
342890
Concept ID:
C1853481
Finding
Renal insufficiency
MedGen UID:
427392
Concept ID:
CN000083
Finding
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Nephropathy
MedGen UID:
504346
Concept ID:
CN000110
Finding
A nonspecific term referring to disease or damage of the kidneys.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
High palate
MedGen UID:
504397
Concept ID:
CN000211
Finding
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Upslanted palpebral fissure
MedGen UID:
504509
Concept ID:
CN000546
Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Depressed nasal bridge
MedGen UID:
446656
Concept ID:
CN004681
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Preauricular pit
MedGen UID:
505650
Concept ID:
CN003961
Finding
Small indentation anterior to the insertion of the ear.
Hypertonia
MedGen UID:
115988
Concept ID:
C0235396
Finding
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Sign or Symptom
A finding referring to walking difficulties.
Cognitive impairment
MedGen UID:
383844
Concept ID:
C1856145
Finding
Seizures
MedGen UID:
409523
Concept ID:
C1959629
Finding
Global developmental delay
MedGen UID:
504774
Concept ID:
CN001157
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.
Abnormality of neuronal migration
MedGen UID:
505178
Concept ID:
CN002060
Finding
An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.
Reduced pancreatic beta cells
MedGen UID:
341644
Concept ID:
C1856904
Finding
Hypothyroidism
MedGen UID:
413085
Concept ID:
C2750951
Finding
Insulin-resistant diabetes mellitus
MedGen UID:
504615
Concept ID:
CN000777
Finding
A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as will as in fasting and postprandial serum insulin levels.
Type II diabetes mellitus
MedGen UID:
505874
Concept ID:
CN005268
Finding
A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.
Coxa valga
MedGen UID:
116080
Concept ID:
C0239137
Finding
Hip deformity in which the angle between the femoral neck and its shaft is increased. It may be congenital, acquired, or developmental.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Short thorax
MedGen UID:
140876
Concept ID:
C0426789
Finding
Narrow iliac wings
MedGen UID:
373150
Concept ID:
C1836688
Finding
Kyphosis
MedGen UID:
335104
Concept ID:
C1845112
Finding
Small epiphyses
MedGen UID:
339612
Concept ID:
C1846803
Finding
Shortening of all middle phalanges of the fingers
MedGen UID:
347331
Concept ID:
C1856912
Finding
Ivory epiphyses of the phalanges of the hand
MedGen UID:
346631
Concept ID:
C1857651
Finding
Platyspondyly
MedGen UID:
355353
Concept ID:
C1865023
Finding
Carpal bone hypoplasia
MedGen UID:
361803
Concept ID:
C1873508
Finding
Flattened epiphysis
MedGen UID:
435918
Concept ID:
C2673393
Finding
Osteoporosis
MedGen UID:
776590
Concept ID:
C2911643
Finding
Abnormality of the metaphyses
MedGen UID:
428237
Concept ID:
CN000883
Finding
An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
Brachydactyly syndrome
MedGen UID:
500899
Concept ID:
CN001088
Finding
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Barrel-shaped chest
MedGen UID:
504853
Concept ID:
CN001416
Finding
A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.
Multiple epiphyseal dysplasia
MedGen UID:
505318
Concept ID:
CN002413
Finding
Epiphyseal dysplasia
MedGen UID:
505320
Concept ID:
CN002415
Finding
Delayed skeletal maturation
MedGen UID:
505344
Concept ID:
CN002495
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Recurrent fractures
MedGen UID:
500939
Concept ID:
CN002502
Finding
The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture).
Hip dislocation
MedGen UID:
505364
Concept ID:
CN002553
Finding
Displacement of the femur from its normal location in the hip joint.
Genu valgum
MedGen UID:
505373
Concept ID:
CN002582
Finding
The legs angle inward, such that the knees are close together and the ankles far apart.
Irregular vertebral endplates
MedGen UID:
505510
Concept ID:
CN002978
Finding
An irregular surface of the vertebral end plates, which are normally relatively smooth.
Hyperlordosis
MedGen UID:
505513
Concept ID:
CN002983
Finding
Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine.
Hypoplasia of the odontoid process
MedGen UID:
500949
Concept ID:
CN002987
Finding
Developmental hypoplasia of the dens of the axis.
Irregular carpal bones
MedGen UID:
428046
Concept ID:
CN003743
Finding
Carpal bones with irregular or fragmented margins.
Irregular tarsal ossification
MedGen UID:
506174
Concept ID:
CN007147
Finding
Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.
Ivory epiphyses of the toes
MedGen UID:
447206
Concept ID:
CN009002
Finding
Cone-shaped epiphyses of the phalanges of the hand
MedGen UID:
447221
Concept ID:
CN009062
Finding
A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.
Hip Subluxation
MedGen UID:
830616
Concept ID:
CN218479
Finding
A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.
Reduced pancreatic beta cells
MedGen UID:
341644
Concept ID:
C1856904
Finding
Exocrine pancreatic insufficiency
MedGen UID:
504939
Concept ID:
CN001582
Finding
Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.
Hepatomegaly
MedGen UID:
505165
Concept ID:
CN002031
Finding
Abnormally increased size of the liver.
Elevated hepatic transaminases
MedGen UID:
505403
Concept ID:
CN002632
Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Acute hepatic failure
MedGen UID:
505930
Concept ID:
CN005710
Finding
Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver.
Chronic hepatic failure
MedGen UID:
506501
Concept ID:
CN117518
Finding
Aplasia/Hypoplasia of the pancreas
MedGen UID:
452024
Concept ID:
CN117690
Finding
A congential underdevelopment (aplasia or hypoplasia) of the pancreas.
Preauricular pit
MedGen UID:
505650
Concept ID:
CN003961
Finding
Small indentation anterior to the insertion of the ear.
Abnormality of neutrophils
MedGen UID:
427900
Concept ID:
CN001694
Finding
A neutrophil abnormality.
Insulin-resistant diabetes mellitus
MedGen UID:
504615
Concept ID:
CN000777
Finding
A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as will as in fasting and postprandial serum insulin levels.
Hypoglycemia
MedGen UID:
505016
Concept ID:
CN001757
Finding
A decreased concentration of glucose in the blood.
Type II diabetes mellitus
MedGen UID:
505874
Concept ID:
CN005268
Finding
A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.
Abnormality of neutrophils
MedGen UID:
427900
Concept ID:
CN001694
Finding
A neutrophil abnormality.
Abnormality of immune system physiology
MedGen UID:
451258
Concept ID:
CN116711
Finding
A functional abnormality of the immune system.
Hypertonia
MedGen UID:
115988
Concept ID:
C0235396
Finding
Coxa valga
MedGen UID:
116080
Concept ID:
C0239137
Finding
Hip deformity in which the angle between the femoral neck and its shaft is increased. It may be congenital, acquired, or developmental.
Shortening of all middle phalanges of the fingers
MedGen UID:
347331
Concept ID:
C1856912
Finding
Ivory epiphyses of the phalanges of the hand
MedGen UID:
346631
Concept ID:
C1857651
Finding
Carpal bone hypoplasia
MedGen UID:
361803
Concept ID:
C1873508
Finding
Abnormality of the metaphyses
MedGen UID:
428237
Concept ID:
CN000883
Finding
An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
Brachydactyly syndrome
MedGen UID:
500899
Concept ID:
CN001088
Finding
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Hip dislocation
MedGen UID:
505364
Concept ID:
CN002553
Finding
Displacement of the femur from its normal location in the hip joint.
Genu valgum
MedGen UID:
505373
Concept ID:
CN002582
Finding
The legs angle inward, such that the knees are close together and the ankles far apart.
Irregular carpal bones
MedGen UID:
428046
Concept ID:
CN003743
Finding
Carpal bones with irregular or fragmented margins.
Irregular tarsal ossification
MedGen UID:
506174
Concept ID:
CN007147
Finding
Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.
Ivory epiphyses of the toes
MedGen UID:
447206
Concept ID:
CN009002
Finding
Cone-shaped epiphyses of the phalanges of the hand
MedGen UID:
447221
Concept ID:
CN009062
Finding
A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.
Hip Subluxation
MedGen UID:
830616
Concept ID:
CN218479
Finding
A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGWolcott-Rallison dysplasia
Follow this link to review classifications for Wolcott-Rallison dysplasia in Orphanet.

Recent clinical studies

Etiology

Jahnavi S, Poovazhagi V, Kanthimathi S, Gayathri V, Mohan V, Radha V
Pediatr Diabetes 2014 Jun;15(4):313-8. Epub 2013 Oct 30 doi: 10.1111/pedi.12089. [Epub ahead of print] PMID: 24168455
Al Kaissi A, Ganger R, Roetzer KM, Schwarzbraun T, Klaushofer K, Grill F
Orthop Surg 2013 Feb;5(1):33-9. doi: 10.1111/os.12023. PMID: 23420745
Liu J, Hoppman N, O'Connell JR, Wang H, Streeten EA, McLenithan JC, Mitchell BD, Shuldiner AR
J Bone Miner Res 2012 Feb;27(2):331-41. doi: 10.1002/jbmr.549. PMID: 22028037Free PMC Article
Julier C, Nicolino M
Orphanet J Rare Dis 2010 Nov 4;5:29. doi: 10.1186/1750-1172-5-29. [Epub ahead of print] PMID: 21050479Free PMC Article
Geneviève D, Héron D, El Ghouzzi V, Prost-Squarcioni C, Le Merrer M, Jacquette A, Sanlaville D, Pinton F, Villeneuve N, Kalifa G, Munnich A, Cormier-Daire V
Eur J Hum Genet 2005 May;13(5):541-6. doi: 10.1038/sj.ejhg.5201339. PMID: 15726110

Diagnosis

Triantafyllou P, Vargiami E, Vagianou I, Badouraki M, Julier C, Zafeiriou DI
J Pediatr Endocrinol Metab 2014 Sep;27(9-10):967-70. doi: 10.1515/jpem-2013-0469. PMID: 24859506
Ersoy B, Özhan B, Kiremitçi S, Rubio-Cabezas O, Ellard S
Eur J Pediatr 2014 Dec;173(12):1565-8. Epub 2013 Aug 11 doi: 10.1007/s00431-013-2110-8. [Epub ahead of print] PMID: 23933668
Habeb AM
Libyan J Med 2013 Jun 10;8:21137. PMID: 23759358Free PMC Article
Al-Shawi M, Al Mutair A, Ellard S, Habeb AM
J Pediatr Endocrinol Metab 2013;26(7-8):757-60. doi: 10.1515/jpem-2012-0071. PMID: 23585173
Mihci E, Türkkahraman D, Ellard S, Akçurin S, Bircan I
J Clin Res Pediatr Endocrinol 2012 Jun;4(2):101-3. doi: 10.4274/jcrpe.619. PMID: 22672868Free PMC Article

Therapy

Stöss H, Pesch HJ, Pontz B, Otten A, Spranger J
Eur J Pediatr 1982 Mar;138(2):120-9. PMID: 7094931

Prognosis

Jahnavi S, Poovazhagi V, Kanthimathi S, Gayathri V, Mohan V, Radha V
Pediatr Diabetes 2014 Jun;15(4):313-8. Epub 2013 Oct 30 doi: 10.1111/pedi.12089. [Epub ahead of print] PMID: 24168455
Habeb AM
Libyan J Med 2013 Jun 10;8:21137. PMID: 23759358Free PMC Article
Reis AF, Kannengiesser C, Jennane F, Manna TD, Cheurfa N, Oudin C, Savoldelli RD, Oliveira C, Grandchamp B, Kok F, Velho G
Pediatr Diabetes 2011 May;12(3 Pt 1):187-91. Epub 2010 Sep 7 doi: 10.1111/j.1399-5448.2010.00679.x. [Epub ahead of print] PMID: 21518408
Julier C, Nicolino M
Orphanet J Rare Dis 2010 Nov 4;5:29. doi: 10.1186/1750-1172-5-29. [Epub ahead of print] PMID: 21050479Free PMC Article
Ozbek MN, Senée V, Aydemir S, Kotan LD, Mungan NO, Yuksel B, Julier C, Topaloglu AK
Pediatr Diabetes 2010 Jun;11(4):279-85. Epub 2010 Feb 25 doi: 10.1111/j.1399-5448.2009.00591.x. [Epub ahead of print] PMID: 20202148

Clinical prediction guides

Jahnavi S, Poovazhagi V, Kanthimathi S, Gayathri V, Mohan V, Radha V
Pediatr Diabetes 2014 Jun;15(4):313-8. Epub 2013 Oct 30 doi: 10.1111/pedi.12089. [Epub ahead of print] PMID: 24168455
Reis AF, Kannengiesser C, Jennane F, Manna TD, Cheurfa N, Oudin C, Savoldelli RD, Oliveira C, Grandchamp B, Kok F, Velho G
Pediatr Diabetes 2011 May;12(3 Pt 1):187-91. Epub 2010 Sep 7 doi: 10.1111/j.1399-5448.2010.00679.x. [Epub ahead of print] PMID: 21518408
Ozbek MN, Senée V, Aydemir S, Kotan LD, Mungan NO, Yuksel B, Julier C, Topaloglu AK
Pediatr Diabetes 2010 Jun;11(4):279-85. Epub 2010 Feb 25 doi: 10.1111/j.1399-5448.2009.00591.x. [Epub ahead of print] PMID: 20202148
Durocher F, Faure R, Labrie Y, Pelletier L, Bouchard I, Laframboise R
Clin Genet 2006 Jul;70(1):34-8. doi: 10.1111/j.1399-0004.2006.00632.x. PMID: 16813601
Stöss H, Pesch HJ, Pontz B, Otten A, Spranger J
Eur J Pediatr 1982 Mar;138(2):120-9. PMID: 7094931

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