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Geroderma osteodysplastica(GO)

MedGen UID:
98149
Concept ID:
C0432255
Disease or Syndrome
Synonyms: Geroderma osteodysplasticum; GO; Walt Disney dwarfism
SNOMED CT: Geroderma osteodysplastica (254116003); Osteodysplastic geroderma (254116003); GO - Geroderma osteodysplastica (254116003)
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): GORAB (1q24.2)
 
Monarch Initiative: MONDO:0009271
OMIM®: 231070
Orphanet: ORPHA2078

Definition

Geroderma osteodysplasticum (GO) is an autosomal recessive disorder characterized by skin wrinkling limited to the dorsa of hands and feet and to the abdomen, bowed long bones, and osteopenia with frequent fractures. There is a distinctive facial appearance with droopy skin at the cheeks, maxillary hypoplasia, and large ears. Adult patients appear prematurely aged (summary by Rajab et al., 2008). [from OMIM]

Clinical features

From HPO
Tibial bowing
MedGen UID:
332360
Concept ID:
C1837081
Finding
A bending or abnormal curvature of the tibia.
Severe short stature
MedGen UID:
3931
Concept ID:
C0013336
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Recurrent fractures
MedGen UID:
42094
Concept ID:
C0016655
Injury or Poisoning
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Hypoplasia of the maxilla
MedGen UID:
66804
Concept ID:
C0240310
Congenital Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Vertebral compression fracture
MedGen UID:
75497
Concept ID:
C0262431
Finding
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.
Camptodactyly
MedGen UID:
195780
Concept ID:
C0685409
Congenital Abnormality
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Increased susceptibility to fractures
MedGen UID:
234655
Concept ID:
C1390474
Finding
An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.
Irregular vertebral endplates
MedGen UID:
331233
Concept ID:
C1842153
Finding
An irregular surface of the vertebral end plates, which are normally relatively smooth.
Hyperextensibility of the finger joints
MedGen UID:
334982
Concept ID:
C1844577
Finding
The ability of the finger joints to move beyond their normal range of motion.
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Biconcave vertebral bodies
MedGen UID:
383834
Concept ID:
C1856087
Finding
Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward.
Beaking of vertebral bodies
MedGen UID:
341588
Concept ID:
C1856599
Finding
Anterior tongue-like protrusions of the vertebral bodies.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Femoral bowing
MedGen UID:
347888
Concept ID:
C1859461
Finding
Bowing (abnormal curvature) of the femur.
Wormian bones
MedGen UID:
766814
Concept ID:
C3553900
Congenital Abnormality
The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Recurrent lower respiratory tract infections
MedGen UID:
756211
Concept ID:
C3163798
Disease or Syndrome
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Periodontitis
MedGen UID:
45815
Concept ID:
C0031099
Disease or Syndrome
Inflammation of the periodontium.
Mandibular prognathia
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Cutis laxa
MedGen UID:
8206
Concept ID:
C0010495
Disease or Syndrome
Wrinkled, redundant, inelastic and sagging skin.
Premature skin wrinkling
MedGen UID:
19996
Concept ID:
C0037301
Finding
The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms.
Progeroid facial appearance
MedGen UID:
341830
Concept ID:
C1857710
Finding
A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.
Neonatal wrinkled skin of hands and feet
MedGen UID:
870438
Concept ID:
C4024884
Finding
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).
Deeply set eye
MedGen UID:
473112
Concept ID:
C0423224
Finding
An eye that is more deeply recessed into the plane of the face than is typical.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGeroderma osteodysplastica
Follow this link to review classifications for Geroderma osteodysplastica in Orphanet.

Professional guidelines

PubMed

Dimopoulou A, Fischer B, Gardeitchik T, Schröter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U
Mol Genet Metab 2013 Nov;110(3):352-61. Epub 2013 Aug 24 doi: 10.1016/j.ymgme.2013.08.009. PMID: 24035636

Recent clinical studies

Etiology

Ritelli M, Cinquina V, Giacopuzzi E, Venturini M, Chiarelli N, Colombi M
Genes (Basel) 2019 Aug 21;10(9) doi: 10.3390/genes10090631. PMID: 31438591Free PMC Article
Noordam C, Funke S, Knoers NV, Jira P, Wevers RA, Urban Z, Morava E
Acta Paediatr 2009 Mar;98(3):490-4. Epub 2008 Dec 4 doi: 10.1111/j.1651-2227.2008.01145.x. PMID: 19055655

Diagnosis

Takeda R, Takagi M, Shinohara H, Futagawa H, Narumi S, Hasegawa T, Nishimura G, Yoshihashi H
Eur J Med Genet 2017 Dec;60(12):635-638. Epub 2017 Aug 12 doi: 10.1016/j.ejmg.2017.08.002. PMID: 28807865
Kariminejad A, Afroozan F, Bozorgmehr B, Ghanadan A, Akbaroghli S, Khorram Khorshid HR, Mojahedi F, Setoodeh A, Loh A, Tan YX, Escande-Beillard N, Malfait F, Reversade B, Gardeitchik T, Morava E
Int J Mol Sci 2017 Mar 15;18(3) doi: 10.3390/ijms18030635. PMID: 28294978Free PMC Article
Sommer A
Am J Med Genet C Semin Med Genet 2007 Aug 15;145C(3):291-2. doi: 10.1002/ajmg.c.30146. PMID: 17640054
Boente Mdel C, Asial RA, Winik BC
Pediatr Dermatol 2006 Sep-Oct;23(5):467-72. doi: 10.1111/j.1525-1470.2006.00285.x. PMID: 17014644
Jukkola A, Kauppila S, Risteli L, Vuopala K, Risteli J, Leisti J, Pajunen L
J Med Genet 1998 Jun;35(6):513-8. doi: 10.1136/jmg.35.6.513. PMID: 9643297Free PMC Article

Therapy

Noordam C, Funke S, Knoers NV, Jira P, Wevers RA, Urban Z, Morava E
Acta Paediatr 2009 Mar;98(3):490-4. Epub 2008 Dec 4 doi: 10.1111/j.1651-2227.2008.01145.x. PMID: 19055655

Prognosis

Noordam C, Funke S, Knoers NV, Jira P, Wevers RA, Urban Z, Morava E
Acta Paediatr 2009 Mar;98(3):490-4. Epub 2008 Dec 4 doi: 10.1111/j.1651-2227.2008.01145.x. PMID: 19055655
Jukkola A, Kauppila S, Risteli L, Vuopala K, Risteli J, Leisti J, Pajunen L
J Med Genet 1998 Jun;35(6):513-8. doi: 10.1136/jmg.35.6.513. PMID: 9643297Free PMC Article

Clinical prediction guides

Noordam C, Funke S, Knoers NV, Jira P, Wevers RA, Urban Z, Morava E
Acta Paediatr 2009 Mar;98(3):490-4. Epub 2008 Dec 4 doi: 10.1111/j.1651-2227.2008.01145.x. PMID: 19055655

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