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Kyphomelic dysplasia

MedGen UID:
140930
Concept ID:
C0432239
Disease or Syndrome
Synonym: Bowing, congenital with short bones
SNOMED CT: Kyphomelic dysplasia (254096001)
 
Monarch Initiative: MONDO:0008881
OMIM®: 211350
Orphanet: ORPHA1801

Definition

A rare primary bone dysplasia characterized, radiologically, by short, stubby long bones, severely angulated femurs and lesser bowing of other long bones (mild, moderate or no bowing), short and wide iliac wings with horizontal acetabular roofs, platyspondyly and a narrow thorax, clinically manifesting with severe, disproportionate short stature. Regression of femora angulation is observed with advancing age. [from ORDO]

Clinical features

From HPO
Talipes equinovarus
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Micromelia
MedGen UID:
10031
Concept ID:
C0025995
Congenital Abnormality
The presence of abnormally small extremities.
Short femur
MedGen UID:
87499
Concept ID:
C0345375
Congenital Abnormality
An abnormal shortening of the femur.
Short humerus
MedGen UID:
316907
Concept ID:
C1832117
Congenital Abnormality
Underdevelopment of the humerus.
Tibial bowing
MedGen UID:
332360
Concept ID:
C1837081
Finding
A bending or abnormal curvature of the tibia.
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.
Radial bowing
MedGen UID:
347136
Concept ID:
C1859399
Anatomical Abnormality
A bending or abnormal curvature of the radius.
Ulnar bowing
MedGen UID:
356099
Concept ID:
C1865847
Finding
Bending of the diaphysis (shaft) of the ulna.
Disproportionate short stature
MedGen UID:
168053
Concept ID:
C0878659
Finding
A kind of short stature in which different regions of the body are shortened to differing extents.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Lateral clavicle hook
MedGen UID:
98426
Concept ID:
C0426805
Finding
An excessive upward convexity of the lateral clavicle.
Thoracic hypoplasia
MedGen UID:
373339
Concept ID:
C1837482
Congenital Abnormality
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Anterior rib cupping
MedGen UID:
337520
Concept ID:
C1846154
Finding
Wide, concave anterior rib end.
Flared metaphysis
MedGen UID:
337976
Concept ID:
C1850135
Finding
The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
Limitation of joint mobility
MedGen UID:
341696
Concept ID:
C1857108
Finding
A reduction in the freedom of movement of one or more joints.
Bowed humerus
MedGen UID:
395269
Concept ID:
C1859460
Finding
A bending or abnormal curvature of the humerus.
Femoral bowing
MedGen UID:
347888
Concept ID:
C1859461
Finding
Bowing (abnormal curvature) of the femur.
Undulate ribs
MedGen UID:
409776
Concept ID:
C1969185
Finding
An abnormally wavy surface or edge of the ribs.
Dumbbell-shaped humerus
MedGen UID:
870802
Concept ID:
C4025259
Anatomical Abnormality
The humerus is shortened and displays flaring (widening) of the metaphyses.
Cleft upper lip
MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
High forehead
MedGen UID:
65991
Concept ID:
C0239676
Finding
An abnormally increased height of the forehead.
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.
Flat face
MedGen UID:
342829
Concept ID:
C1853241
Finding
Absence of concavity or convexity of the face when viewed in profile.
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).
Pterygium
MedGen UID:
46202
Concept ID:
C0033999
Finding
Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVKyphomelic dysplasia
Follow this link to review classifications for Kyphomelic dysplasia in Orphanet.

Recent clinical studies

Etiology

Itai T, Wang Z, Nishimura G, Ohashi H, Guo L, Wakano Y, Sugiura T, Hayakawa H, Okada M, Saisu T, Kitta A, Doi H, Kurosawa K, Hotta Y, Hosono K, Sato M, Shimizu K, Takikawa K, Watanabe S, Ikeda N, Suzuki M, Fujita A, Uchiyama Y, Tsuchida N, Miyatake S, Miyake N, Matsumoto N, Ikegawa S
Clin Genet 2022 Jul;102(1):3-11. Epub 2022 Apr 5 doi: 10.1111/cge.14133. PMID: 35342932
Leal GF, Nishimura G, Voss U, Bertola DR, Åström E, Svensson J, Yamamoto GL, Hammarsjö A, Horemuzova E, Papadiogannakis N, Iwarsson E, Grigelioniene G, Tham E
J Bone Miner Res 2018 Apr;33(4):753-760. Epub 2018 Jan 4 doi: 10.1002/jbmr.3348. PMID: 29178448
Cormier-Daire V, Geneviève D, Munnich A, Le Merrer M
Clin Genet 2004 Sep;66(3):169-76. doi: 10.1111/j.0009-9163.2004.00307.x. PMID: 15324311
Spranger J, Hall BD, Häne B, Srivastava A, Stevenson RE
Am J Med Genet 2000 Oct 2;94(4):287-95. doi: 10.1002/1096-8628(20001002)94:4<287::aid-ajmg5>3.0.co;2-g. PMID: 11038441
Pallotta R, Ehresmann T, Roggini M, Fusilli P
Radiology 1999 Sep;212(3):847-52. doi: 10.1148/radiology.212.3.r99au04847. PMID: 10478256

Diagnosis

Itai T, Wang Z, Nishimura G, Ohashi H, Guo L, Wakano Y, Sugiura T, Hayakawa H, Okada M, Saisu T, Kitta A, Doi H, Kurosawa K, Hotta Y, Hosono K, Sato M, Shimizu K, Takikawa K, Watanabe S, Ikeda N, Suzuki M, Fujita A, Uchiyama Y, Tsuchida N, Miyatake S, Miyake N, Matsumoto N, Ikegawa S
Clin Genet 2022 Jul;102(1):3-11. Epub 2022 Apr 5 doi: 10.1111/cge.14133. PMID: 35342932
Leal GF, Nishimura G, Voss U, Bertola DR, Åström E, Svensson J, Yamamoto GL, Hammarsjö A, Horemuzova E, Papadiogannakis N, Iwarsson E, Grigelioniene G, Tham E
J Bone Miner Res 2018 Apr;33(4):753-760. Epub 2018 Jan 4 doi: 10.1002/jbmr.3348. PMID: 29178448
Prasad C, Cramer BC, Pushpanathan C, Crowley MC, Ives EJ
Clin Genet 2000 Nov;58(5):390-5. doi: 10.1034/j.1399-0004.2000.580510.x. PMID: 11140840
Pallotta R, Ehresmann T, Roggini M, Fusilli P
Radiology 1999 Sep;212(3):847-52. doi: 10.1148/radiology.212.3.r99au04847. PMID: 10478256
Cisarik F, Kozlowski K, Masel J, Sillence D
Pediatr Radiol 1999 Jul;29(7):551-7. doi: 10.1007/s002470050644. PMID: 10398797

Prognosis

Farra C, Piquet C, Guillaume M, D'Ercole C, Philip N
Fetal Diagn Ther 2002 Jul-Aug;17(4):236-9. doi: 10.1159/000059376. PMID: 12065952
Spranger J, Hall BD, Häne B, Srivastava A, Stevenson RE
Am J Med Genet 2000 Oct 2;94(4):287-95. doi: 10.1002/1096-8628(20001002)94:4<287::aid-ajmg5>3.0.co;2-g. PMID: 11038441
Pallotta R, Ehresmann T, Roggini M, Fusilli P
Radiology 1999 Sep;212(3):847-52. doi: 10.1148/radiology.212.3.r99au04847. PMID: 10478256
Cisarik F, Kozlowski K, Masel J, Sillence D
Pediatr Radiol 1999 Jul;29(7):551-7. doi: 10.1007/s002470050644. PMID: 10398797
Temple IK, Thompson EM, Hall CM, Bridgeman G, Pembrey ME
J Med Genet 1989 Jul;26(7):457-61. doi: 10.1136/jmg.26.7.457. PMID: 2746619Free PMC Article

Clinical prediction guides

Itai T, Wang Z, Nishimura G, Ohashi H, Guo L, Wakano Y, Sugiura T, Hayakawa H, Okada M, Saisu T, Kitta A, Doi H, Kurosawa K, Hotta Y, Hosono K, Sato M, Shimizu K, Takikawa K, Watanabe S, Ikeda N, Suzuki M, Fujita A, Uchiyama Y, Tsuchida N, Miyatake S, Miyake N, Matsumoto N, Ikegawa S
Clin Genet 2022 Jul;102(1):3-11. Epub 2022 Apr 5 doi: 10.1111/cge.14133. PMID: 35342932

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