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Spondyloperipheral dysplasia

MedGen UID:
163223
Concept ID:
C0796173
Disease or Syndrome
Synonyms: Spondyloperipheral dysplasia with short ulna; Spondyloperipheral dysplasia-short ulna syndrome
SNOMED CT: Spondyloperipheral dysplasia (702339001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): COL2A1 (12q13.11)
 
Monarch Initiative: MONDO:0010078
OMIM®: 271700
Orphanet: ORPHA1856

Definition

Spondyloperipheral dysplasia is a disorder that impairs bone growth. This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly), with the exception of the first (big) toes. Other skeletal abnormalities associated with spondyloperipheral dysplasia include short stature, shortened long bones of the arms and legs, exaggerated curvature of the lower back (lordosis), and an inward- and upward-turning foot (clubfoot). Additionally, some affected individuals have nearsightedness (myopia), hearing loss, and intellectual disability. [from MedlinePlus Genetics]

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.
Broad palm
MedGen UID:
75535
Concept ID:
C0264142
Congenital Abnormality
For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.
Broad thumb
MedGen UID:
140880
Concept ID:
C0426891
Finding
Increased thumb width without increased dorso-ventral dimension.
Short thumb
MedGen UID:
98469
Concept ID:
C0431890
Congenital Abnormality
Hypoplasia (congenital reduction in size) of the thumb.
Short toe
MedGen UID:
322858
Concept ID:
C1836195
Finding
A toe that appears disproportionately short compared to the foot.
Short distal phalanx of the 5th finger
MedGen UID:
373146
Concept ID:
C1836674
Finding
Hypoplastic/small distal phalanx of the fifth finger.
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.
Flat acetabular roof
MedGen UID:
373340
Concept ID:
C1837485
Finding
Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.
Short distal phalanx of finger
MedGen UID:
326590
Concept ID:
C1839829
Finding
Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
Short foot
MedGen UID:
376415
Concept ID:
C1848673
Finding
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Shortening of all middle phalanges of the fingers
MedGen UID:
347331
Concept ID:
C1856912
Finding
Short, hypoplastic middle phalanx of finger, affecting all fingers.
Hypoplasia of the ulna
MedGen UID:
395934
Concept ID:
C1860614
Congenital Abnormality
Underdevelopment of the ulna.
Limited elbow extension
MedGen UID:
401158
Concept ID:
C1867103
Finding
Limited ability to straighten the arm at the elbow joint.
Rhizomelic arm shortening
MedGen UID:
409853
Concept ID:
C1969532
Finding
Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).
Acetabular spurs
MedGen UID:
814600
Concept ID:
C3808270
Finding
The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum.
Short distal phalanx of the 2nd finger
MedGen UID:
867080
Concept ID:
C4021438
Anatomical Abnormality
Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger.
Short distal phalanx of the 4th finger
MedGen UID:
867141
Concept ID:
C4021499
Anatomical Abnormality
Hypoplastic/small distal phalanx of the fourth finger.
Short distal phalanx of the 3rd finger
MedGen UID:
867318
Concept ID:
C4021681
Anatomical Abnormality
Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger.
Rhizomelic leg shortening
MedGen UID:
868639
Concept ID:
C4023039
Anatomical Abnormality
Disproportionate shortening of the proximal segment of the leg (i.e. the femur).
Shortening of all proximal phalanges of the fingers
MedGen UID:
870637
Concept ID:
C4025089
Anatomical Abnormality
Congenital hypoplasia of proximal phalanx of finger or all fingers.
Absent styloid process of ulna
MedGen UID:
870797
Concept ID:
C4025254
Anatomical Abnormality
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).
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
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).
Pectus carinatum
MedGen UID:
57643
Concept ID:
C0158731
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Barrel-shaped chest
MedGen UID:
120497
Concept ID:
C0264172
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.
Irregular vertebral endplates
MedGen UID:
331233
Concept ID:
C1842153
Finding
An irregular surface of the vertebral end plates, which are normally relatively smooth.
Flat capital femoral epiphysis
MedGen UID:
334001
Concept ID:
C1842155
Finding
An abnormal flattening of the proximal epiphysis of the femur.
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Ovoid vertebral bodies
MedGen UID:
344549
Concept ID:
C1855665
Finding
When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.
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.
Cone-shaped epiphyses of the phalanges of the hand
MedGen UID:
347156
Concept ID:
C1859480
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.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
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.
Pugilistic facies
MedGen UID:
335321
Concept ID:
C1846011
Finding
Coarse facial features reminiscent of those of a boxer.
Midface retrusion
MedGen UID:
339938
Concept ID:
C1853242
Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
High myopia
MedGen UID:
78759
Concept ID:
C0271183
Disease or Syndrome
A severe form of myopia with greater than -6.00 diopters.

Recent clinical studies

Etiology

Terhal PA, Nievelstein RJ, Verver EJ, Topsakal V, van Dommelen P, Hoornaert K, Le Merrer M, Zankl A, Simon ME, Smithson SF, Marcelis C, Kerr B, Clayton-Smith J, Kinning E, Mansour S, Elmslie F, Goodwin L, van der Hout AH, Veenstra-Knol HE, Herkert JC, Lund AM, Hennekam RC, Mégarbané A, Lees MM, Wilson LC, Male A, Hurst J, Alanay Y, Annerén G, Betz RC, Bongers EM, Cormier-Daire V, Dieux A, David A, Elting MW, van den Ende J, Green A, van Hagen JM, Hertel NT, Holder-Espinasse M, den Hollander N, Homfray T, Hove HD, Price S, Raas-Rothschild A, Rohrbach M, Schroeter B, Suri M, Thompson EM, Tobias ES, Toutain A, Vreeburg M, Wakeling E, Knoers NV, Coucke P, Mortier GR
Am J Med Genet A 2015 Mar;167A(3):461-75. Epub 2015 Jan 21 doi: 10.1002/ajmg.a.36922. PMID: 25604898
Bedeschi MF, Bianchi V, Gentilin B, Colombo L, Natacci F, Giglio S, Andreucci E, Trespidi L, Acaia B, Furga AS, Lalatta F
Orphanet J Rare Dis 2011 Feb 28;6:7. doi: 10.1186/1750-1172-6-7. PMID: 21356074Free PMC Article
Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafé L, Spranger J, Zabel B, Superti-Furga A
Am J Med Genet A 2005 Feb 15;133A(1):61-7. doi: 10.1002/ajmg.a.30531. PMID: 15643621

Diagnosis

Zhang Z, Zhao SC, He JW, Fu WZ, Zhang CQ, Zhang ZL
Gene 2013 Jun 10;522(1):107-10. Epub 2013 Mar 29 doi: 10.1016/j.gene.2013.03.083. PMID: 23545312
Désir J, Cassart M, Donner C, Coucke P, Abramowicz M, Mortier G
Am J Med Genet A 2012 Aug;158A(8):1948-52. Epub 2012 Apr 11 doi: 10.1002/ajmg.a.35301. PMID: 22495950
Bedeschi MF, Bianchi V, Gentilin B, Colombo L, Natacci F, Giglio S, Andreucci E, Trespidi L, Acaia B, Furga AS, Lalatta F
Orphanet J Rare Dis 2011 Feb 28;6:7. doi: 10.1186/1750-1172-6-7. PMID: 21356074Free PMC Article
Hoornaert KP, Marik I, Kozlowski K, Cole T, Le Merrer M, Leroy JG, Coucke PJ, Sillence D, Mortier GR
Eur J Hum Genet 2007 Dec;15(12):1269-75. Epub 2007 Aug 29 doi: 10.1038/sj.ejhg.5201913. PMID: 17726487
Zankl A, Zabel B, Hilbert K, Wildhardt G, Cuenot S, Xavier B, Ha-Vinh R, Bonafé L, Spranger J, Superti-Furga A
Am J Med Genet A 2004 Aug 30;129A(2):144-8. doi: 10.1002/ajmg.a.30222. PMID: 15316962

Prognosis

Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafé L, Spranger J, Zabel B, Superti-Furga A
Am J Med Genet A 2005 Feb 15;133A(1):61-7. doi: 10.1002/ajmg.a.30531. PMID: 15643621
Zankl A, Zabel B, Hilbert K, Wildhardt G, Cuenot S, Xavier B, Ha-Vinh R, Bonafé L, Spranger J, Superti-Furga A
Am J Med Genet A 2004 Aug 30;129A(2):144-8. doi: 10.1002/ajmg.a.30222. PMID: 15316962

Clinical prediction guides

Terhal PA, Nievelstein RJ, Verver EJ, Topsakal V, van Dommelen P, Hoornaert K, Le Merrer M, Zankl A, Simon ME, Smithson SF, Marcelis C, Kerr B, Clayton-Smith J, Kinning E, Mansour S, Elmslie F, Goodwin L, van der Hout AH, Veenstra-Knol HE, Herkert JC, Lund AM, Hennekam RC, Mégarbané A, Lees MM, Wilson LC, Male A, Hurst J, Alanay Y, Annerén G, Betz RC, Bongers EM, Cormier-Daire V, Dieux A, David A, Elting MW, van den Ende J, Green A, van Hagen JM, Hertel NT, Holder-Espinasse M, den Hollander N, Homfray T, Hove HD, Price S, Raas-Rothschild A, Rohrbach M, Schroeter B, Suri M, Thompson EM, Tobias ES, Toutain A, Vreeburg M, Wakeling E, Knoers NV, Coucke P, Mortier GR
Am J Med Genet A 2015 Mar;167A(3):461-75. Epub 2015 Jan 21 doi: 10.1002/ajmg.a.36922. PMID: 25604898
Désir J, Cassart M, Donner C, Coucke P, Abramowicz M, Mortier G
Am J Med Genet A 2012 Aug;158A(8):1948-52. Epub 2012 Apr 11 doi: 10.1002/ajmg.a.35301. PMID: 22495950
Hoornaert KP, Marik I, Kozlowski K, Cole T, Le Merrer M, Leroy JG, Coucke PJ, Sillence D, Mortier GR
Eur J Hum Genet 2007 Dec;15(12):1269-75. Epub 2007 Aug 29 doi: 10.1038/sj.ejhg.5201913. PMID: 17726487
Zankl A, Zabel B, Hilbert K, Wildhardt G, Cuenot S, Xavier B, Ha-Vinh R, Bonafé L, Spranger J, Superti-Furga A
Am J Med Genet A 2004 Aug 30;129A(2):144-8. doi: 10.1002/ajmg.a.30222. PMID: 15316962

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