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Rapadilino syndrome

MedGen UID:
336602
Concept ID:
C1849453
Disease or Syndrome
Synonyms: Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate; Radial and patellar aplasia; Radial and patellar hypoplasia; RECQL4-Related Disorders
SNOMED CT: RAPADILINO - radial ray malformations, patella and palate abnormalities, diarrhea and dislocated joints, limb abnormalities and little size, slender nose and normal intelligence (702413000); RAPADILINO syndrome (702413000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): RECQL4 (8q24.3)
 
Monarch Initiative: MONDO:0009955
OMIM®: 266280
Orphanet: ORPHA3021

Definition

RAPADILINO syndrome is a rare condition that involves many parts of the body. Bone development is especially affected, causing many of the characteristic features of the condition.Most affected individuals have underdevelopment or absence of the bones in the forearms and the thumbs, which are known as radial ray malformations. The kneecaps (patellae) can also be underdeveloped or absent. Other features include an opening in the roof of the mouth (cleft palate) or a high arched palate; a long, slender nose; and dislocated joints.Many infants with RAPADILINO syndrome have difficulty feeding and experience diarrhea and vomiting. The combination of impaired bone development and feeding problems leads to slow growth and short stature in affected individuals.Some individuals with RAPADILINO syndrome have harmless light brown patches of skin that resemble a skin finding known as café-au-lait spots. In addition, people with RAPADILINO syndrome have a slightly increased risk of developing a type of bone cancer known as osteosarcoma or a blood-related cancer called lymphoma. In individuals with RAPADILINO syndrome, osteosarcoma most often develops during childhood or adolescence, and lymphoma typically develops in young adulthood.The condition name is an acronym for the characteristic features of the disorder: RA for radial ray malformations, PA for patella and palate abnormalities, DI for diarrhea and dislocated joints, LI for limb abnormalities and little size, and NO for slender nose and normal intelligence.The varied signs and symptoms of RAPADILINO syndrome overlap with features of other disorders, namely Baller-Gerold syndrome and Rothmund-Thomson syndrome. These syndromes are also characterized by radial ray defects, skeletal abnormalities, and slow growth. All of these conditions can be caused by mutations in the same gene. Based on these similarities, researchers are investigating whether Baller-Gerold syndrome, Rothmund-Thomson syndrome, and RAPADILINO syndrome are separate disorders or part of a single syndrome with overlapping signs and symptoms.
[from GHR]

Clinical features

From HPO
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.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency of loose or watery bowel movements.
Joint dislocation
MedGen UID:
41614
Concept ID:
C0012691
Injury or Poisoning
A displacement of a part (especially a bone) from its normal position.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
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).
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).
Mottled pigmentation
MedGen UID:
163653
Concept ID:
C0860439
Finding
Patchy and irregular skin pigmentation.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A general term for the complete or partial loss of the ability to hear from one or both ears.
Long face
MedGen UID:
324419
Concept ID:
C1836047
Finding
Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
High, narrow palate
MedGen UID:
324787
Concept ID:
C1837404
Finding
The presence of a high and narrow palate.
Slender nose
MedGen UID:
347514
Concept ID:
C1857645
Finding
Patella aplasia/hypoplasia
MedGen UID:
358246
Concept ID:
C1868577
Finding
Narrow palpebral fissure
MedGen UID:
382506
Concept ID:
C2675021
Finding
Reduction in the vertical distance between the upper and lower eyelids.
Aplasia/Hypoplasia of the radius
MedGen UID:
411844
Concept ID:
C2749463
Finding
A small/hypoplastic or absent/aplastic radius.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Absent thumb
MedGen UID:
480441
Concept ID:
C3278811
Finding
Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.
Short chin
MedGen UID:
784514
Concept ID:
C3697248
Finding
Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.
Stiff interphalangeal joints
MedGen UID:
870780
Concept ID:
C4025237
Anatomical Abnormality
Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity.
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
The following clinical feature is unrelated to Rapadilino syndrome

Term Hierarchy

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

Recent clinical studies

Etiology

Larizza L, Roversi G, Volpi L
Orphanet J Rare Dis 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. PMID: 20113479Free PMC Article
Siitonen HA, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier-Daire V, Crandall B, Hannula-Jouppi K, Hennekam R, Herzog D, Keymolen K, Lipsanen-Nyman M, Miny P, Plon SE, Riedl S, Sarkar A, Vargas FR, Verloes A, Wang LL, Kääriäinen H, Kestilä M
Eur J Hum Genet 2009 Feb;17(2):151-8. Epub 2008 Aug 20 doi: 10.1038/ejhg.2008.154. PMID: 18716613Free PMC Article
Bongers EM, van Kampen A, van Bokhoven H, Knoers NV
Clin Genet 2005 Oct;68(4):302-19. doi: 10.1111/j.1399-0004.2005.00508.x. PMID: 16143015
Siitonen HA, Kopra O, Kääriäinen H, Haravuori H, Winter RM, Säämänen AM, Peltonen L, Kestilä M
Hum Mol Genet 2003 Nov 1;12(21):2837-44. Epub 2003 Sep 2 doi: 10.1093/hmg/ddg306. PMID: 12952869

Diagnosis

Larizza L, Roversi G, Volpi L
Orphanet J Rare Dis 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. PMID: 20113479Free PMC Article
Kellermayer R, Siitonen HA, Hadzsiev K, Kestilä M, Kosztolányi G
Arch Dermatol 2005 May;141(5):617-20. doi: 10.1001/archderm.141.5.617. PMID: 15897384
Wieczorek D, Köster B, Gillessen-Kaesbach G
Am J Med Genet 2002 Mar 15;108(3):209-13. doi: 10.1002/ajmg.10271. PMID: 11891687
Kääriäinen H, Ryöppy S, Norio R
Am J Med Genet 1989 Jul;33(3):346-51. doi: 10.1002/ajmg.1320330312. PMID: 2801769

Therapy

Mo D, Zhao Y, Balajee AS
Cancer Lett 2018 Jan 28;413:1-10. Epub 2017 Nov 7 doi: 10.1016/j.canlet.2017.10.021. PMID: 29080750
Sandoval C, Dunbar J, Ozkaynak M, Jayabose S
Pediatr Hematol Oncol 2012 Apr;29(3):270-1. doi: 10.3109/08880018.2012.668748. PMID: 22475304

Prognosis

Kellermayer R, Siitonen HA, Hadzsiev K, Kestilä M, Kosztolányi G
Arch Dermatol 2005 May;141(5):617-20. doi: 10.1001/archderm.141.5.617. PMID: 15897384

Clinical prediction guides

Croteau DL, Rossi ML, Ross J, Dawut L, Dunn C, Kulikowicz T, Bohr VA
Biochim Biophys Acta 2012 Nov;1822(11):1727-34. Epub 2012 Jul 31 doi: 10.1016/j.bbadis.2012.07.014. PMID: 22885111Free PMC Article
Kellermayer R, Siitonen HA, Hadzsiev K, Kestilä M, Kosztolányi G
Arch Dermatol 2005 May;141(5):617-20. doi: 10.1001/archderm.141.5.617. PMID: 15897384

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