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Spondylometaphyseal dysplasia, 'corner fracture' type

General Information (adopted from Orphanet):

Synonyms, Signs:	spondylometaphyseal dysplasia, sutcliffe type
Number of Symptoms	29
OrphanetNr:	93315
OMIM Id:	184255
ICD-10:	Q77.8
UMLs:	C0432221
MeSH:	C535793
MedDRA:
Snomed:	254078005

Prevalence, inheritance and age of onset:

Prevalence:	< 30 cases [Orphanet]
Inheritance:	Autosomal dominant [Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases:

Spondylometaphyseal dysplasia
-Rare bone disease
-Rare developmental defect during embryogenesis
-Rare genetic disease
Type 2 collagen-related bone disorder
-Rare genetic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0002515)	Waddling gait		56 / 7739
2	(HPO:0000944)	Abnormality of the metaphyses	Very frequent [Orphanet]	141 / 7739
3	(HPO:0001763)	Pes planus	Occasional [Orphanet]	176 / 7739
4	(HPO:0002983)	Micromelia	Very frequent [Orphanet]	130 / 7739
5	(HPO:0002808)	Kyphosis	Occasional [Orphanet]	289 / 7739
6	(HPO:0002857)	Genu valgum	Occasional [Orphanet]	144 / 7739
7	(HPO:0003019)	Abnormality of the wrist	Very frequent [Orphanet]	52 / 7739
8	(HPO:0002657)	Spondylometaphyseal dysplasia		12 / 7739
9	(HPO:0003312)	Abnormal form of the vertebral bodies	Very frequent [Orphanet]	172 / 7739
10	(HPO:0003311)	Hypoplasia of the odontoid process	Very frequent [Orphanet]	34 / 7739
11	(HPO:0009882)	Short distal phalanx of finger	Occasional [Orphanet]	125 / 7739
12	(HPO:0002812)	Coxa vara		58 / 7739
13	(HPO:0100559)	Lower limb asymmetry	Occasional [Orphanet]	30 / 7739
14	(HPO:0001385)	Hip dysplasia	Very frequent [Orphanet]	242 / 7739
15	(HPO:0100864)	Short femoral neck		36 / 7739
16	(HPO:0003025)	Metaphyseal irregularity		42 / 7739
17	(HPO:0002650)	Scoliosis	Occasional [Orphanet]	705 / 7739
18	(HPO:0003307)	Hyperlordosis	Frequent [Orphanet]	122 / 7739
19	(HPO:0002659)	Increased susceptibility to fractures	Very frequent [Orphanet]	110 / 7739
20	(HPO:0001163)	Abnormality of the metacarpal bones	Occasional [Orphanet]	149 / 7739
21	(HPO:0004603)	Hyperconvex vertebral body endplates		1 / 7739
22	(HPO:0004322)	Short stature	Very frequent [Orphanet]	1232 / 7739
23	(HPO:0001636)	Tetralogy of Fallot	Occasional [Orphanet]	104 / 7739
24	(OMIM)	Developmental (progressive) coxa vara		1 / 7739
25	(OMIM)	Single/multiple bone fragments of proximal femoral neck metaphyses		1 / 7739
26	(HPO:0000006)	Autosomal dominant inheritance		2518 / 7739
27	(OMIM)	Bucket-handle fractures		1 / 7739
28	(OMIM)	Lucent/sclerotic metaphyseal irregularity		1 / 7739
29	(OMIM)	Corner fractures of long tubular bones metaphyses		1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

In 11 patients, including a father and daughter and a mother and 2 children, Langer et al. (1990) described an apparently unique skeletal dysplasia associated with short stature and developmental coxa vara. Progressive hip deformity usually resulted in ... In 11 patients, including a father and daughter and a mother and 2 children, Langer et al. (1990) described an apparently unique skeletal dysplasia associated with short stature and developmental coxa vara. Progressive hip deformity usually resulted in a significant disability requiring surgical correction. The diagnostic constellation comprised coxa vara, simulated 'corner fractures' of long tubular bones, and vertebral body abnormalities. They pictured x-rays of patients with large triangular fragments situated laterally in the distal tibial metaphyses on the ulnar aspect of the distal radius and in the proximal humerus. The vertebral body endplates were more convex than usual for the patient's age. Some hypoplasia of the anterior part of the bodies created an appearance of anterior wedging. By the time a gait disturbance was identified, at about 2 years of age, characteristic radiographic changes were present in the hips. Continued slippage of the femoral capital epiphysis resulted in an angle between the long axis of the femoral capital epiphysis and the femoral shaft of 90 degrees or less. This type of deformity is referred to as developmental coxa vara. Also called the Sutcliffe type of spondylometaphyseal dysplasia (SMD) (Sutcliffe, 1966), cases of SMD 'corner fractures' type were described by Felman et al. (1974), Langer et al. (1990), Kozlowski et al. (1992), and Currarino et al. (2000). The features of these cases were proportional short stature, mild vertebral abnormalities, developmental coxa vara in most cases, metaphyseal abnormalities that included flakelike, triangular, or curvilinear ossification centers at the edges of the metaphyses (corner fractures), and deficiency or absence of ossification of the odontoid process. Mild short stature in childhood was a feature. This type of SMD differs from the Kozlowski type (184252) by the presence of corner fractures, absence of marked platyspondyly, absence of kyphoscoliosis, and milder involvement of short tubular bones (Langer et al., 1990). Sutton et al. (2005) reported a family with a dominantly inherited SMD with corner fractures and severe, congenital scoliosis but neither coxa vara nor odontoid abnormalities, which are usually found with the corner fracture type of SMD. Severe congenital scoliosis and short stature were present in all members of this family, suggesting that the disorder may represent a different dominantly inherited SMD.

Symptoms & Signs

	Field	Query
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