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SPONASTRIME dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs:	SPONASTRIME DYSPLASIA SHORT-LIMB DWARFISM WITH SADDLE NOSE, SPINAL ALTERATIONS, AND METAPHYSEAL STRIATION SPONDYLAR AND NASAL ALTERATIONS WITH STRIATED METAPHYSES Spondyloepimetaphyseal dysplasia, Sponastrime type
Number of Symptoms	62
OrphanetNr:	93357
OMIM Id:	271510
ICD-10:	Q77.7
UMLs:
MeSH:
MedDRA:
Snomed:	389161008

Prevalence, inheritance and age of onset:

Prevalence:	No data available.
Inheritance:	Autosomal recessive [Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases:

Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
-Rare bone disease
-Rare developmental defect during embryogenesis
-Rare genetic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0011800)	Midface retrusion	Very frequent [Orphanet]	221 / 7739
2	(HPO:0000463)	Anteverted nares	Very frequent [Orphanet]	305 / 7739
3	(HPO:0002007)	Frontal bossing	Very frequent [Orphanet]	366 / 7739
4	(HPO:0004482)	Relative macrocephaly		44 / 7739
5	(HPO:0012471)	Thick vermilion border	Frequent [Orphanet]	115 / 7739
6	(HPO:0000316)	Hypertelorism		644 / 7739
7	(HPO:0005280)	Depressed nasal bridge	Very frequent [Orphanet]	381 / 7739
8	(HPO:0004437)	Cranial hyperostosis	Frequent [Orphanet]	55 / 7739
9	(HPO:0003196)	Short nose	Very frequent [Orphanet]	264 / 7739
10	(HPO:0000272)	Malar flattening		277 / 7739
11	(HPO:0006336)	Short dental roots		2 / 7739
12	(HPO:0007787)	Posterior subcapsular cataract		20 / 7739
13	(HPO:0000518)	Cataract	Occasional [Orphanet]	454 / 7739
14	(HPO:0001288)	Gait disturbance	Frequent [Orphanet]	318 / 7739
15	(HPO:0006887)	Intellectual disability, progressive		68 / 7739
16	(HPO:0001249)	Intellectual disability	Occasional [HPO:probinson]	1089 / 7739
17	(HPO:0000926)	Platyspondyly		150 / 7739
18	(HPO:0003307)	Hyperlordosis	Very frequent [Orphanet]	122 / 7739
19	(HPO:0000938)	Osteopenia		138 / 7739
20	(HPO:0002651)	Spondyloepimetaphyseal dysplasia		19 / 7739
21	(HPO:0003027)	Mesomelia	Very frequent [Orphanet]	58 / 7739
22	(HPO:0003370)	Flat capital femoral epiphysis		15 / 7739
23	(HPO:0002750)	Delayed skeletal maturation	Very frequent [Orphanet]	250 / 7739
24	(HPO:0001216)	Delayed ossification of carpal bones		30 / 7739
25	(HPO:0003025)	Metaphyseal irregularity		42 / 7739
26	(HPO:0001385)	Hip dysplasia	Frequent [Orphanet]	242 / 7739
27	(HPO:0002938)	Lumbar hyperlordosis		73 / 7739
28	(HPO:0002650)	Scoliosis	Frequent [Orphanet]	705 / 7739
29	(HPO:0001377)	Limited elbow extension		38 / 7739
30	(HPO:0005930)	Abnormality of epiphysis morphology	Very frequent [Orphanet]	119 / 7739
31	(HPO:0002808)	Kyphosis	Frequent [Orphanet]	289 / 7739
32	(HPO:0004565)	Severe platyspondyly		13 / 7739
33	(HPO:0000944)	Abnormality of the metaphyses	Very frequent [Orphanet]	141 / 7739
34	(HPO:0002942)	Thoracic kyphosis		14 / 7739
35	(HPO:0002812)	Coxa vara		58 / 7739
36	(HPO:0004586)	Biconcave vertebral bodies		15 / 7739
37	(HPO:0001163)	Abnormality of the metacarpal bones	Very frequent [Orphanet]	149 / 7739
38	(HPO:0001382)	Joint hypermobility	Frequent [Orphanet]	231 / 7739
39	(HPO:0008486)	Lumbar interpedicular narrowing		1 / 7739
40	(HPO:0002751)	Kyphoscoliosis		131 / 7739
41	(HPO:0000926)	Platyspondyly	Very frequent [Orphanet]	150 / 7739
42	(HPO:0008905)	Rhizomelia	Very frequent [Orphanet]	85 / 7739
43	(HPO:0004349)	Reduced bone mineral density	Very frequent [Orphanet]	165 / 7739
44	(HPO:0004322)	Short stature	Very frequent [Orphanet]	1232 / 7739
45	(HPO:0008873)	Disproportionate short-limb short stature		39 / 7739
46	(HPO:0004315)	IgG deficiency		38 / 7739
47	(HPO:0010701)	Abnormal immunoglobulin level	Occasional [Orphanet]	49 / 7739
48	(HPO:0004313)	Decreased antibody level in blood		47 / 7739
49	(HPO:0001607)	Subglottic stenosis		5 / 7739
50	(HPO:0008755)	Laryngotracheomalacia		1 / 7739
51	(HPO:0001252)	Muscular hypotonia	Frequent [Orphanet]	990 / 7739
52	(OMIM)	Posterior scalloping		2 / 7739
53	(OMIM)	Mental retardation, in subgroup of patients		1 / 7739
54	(OMIM)	Short upturned nose		6 / 7739
55	(HPO:0000007)	Autosomal recessive inheritance		2538 / 7739
56	(OMIM)	Mild mesomelia		1 / 7739
57	(OMIM)	Bilateral posterior subcapsular cataracts		1 / 7739
58	(OMIM)	Flattened capital femoral epiphyses		5 / 7739
59	(OMIM)	Metaphyseal striations		2 / 7739
60	(OMIM)	Hypoplastic epiphyses		1 / 7739
61	(OMIM)	Delayed carpal bone ossification		1 / 7739
62	(OMIM)	Relative increase in anterior vertebral body height		1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Fanconi et al. (1983) described 4 sisters with short-limb dwarfism, moderate deformity of the vertebral bodies, mildly striated metaphyses, saddle nose, frontal bossing, relatively large head, and normal intelligence. The parents were not related. The paternal grandmother and ... Fanconi et al. (1983) described 4 sisters with short-limb dwarfism, moderate deformity of the vertebral bodies, mildly striated metaphyses, saddle nose, frontal bossing, relatively large head, and normal intelligence. The parents were not related. The paternal grandmother and 1 of her sisters, as well as the maternal grandmother and a maternal aunt, showed short stature (height, 148-156 cm). One of the illustrations showed a 13-year-old girl who appears to have a somewhat shortened trunk. The designation proposed by the authors, sponastrime dysplasia, was derived from 'spondylar and nasal alterations with striated metaphyses.' Lachman et al. (1989) reported a second family with affected brother and sister. The midface hypoplasia and saddle nose created an 'Oriental look.' There was no history of consanguinity. The father and mother were 176 and 170 cm tall, respectively. The maternal grandfather and grandmother were 172 and 165 cm tall, respectively. Camera et al. (1993) reported 2 sisters with similar skeletal abnormalities (but milder spinal involvement), microcephaly, mental retardation, and slightly different facial appearance (a more flat face with a larger nose). A severely retarded boy with sponastrime dysplasia and microcephaly was presented by Verloes et al. (1995), who proposed that the disorder in patients with the additional feature of mental retardation be designated sponastrime dysplasia type 2. Langer et al. (1996) reviewed 9 published cases and described 5 new cases. Of the 9 previous cases, Langer et al. (1996) believed that 3 did not have sponastrime dysplasia. They summarized the clinical findings as including mild to moderate short stature with the lower limbs more severely affected than the upper limbs. Birth length is usually reduced but may be in the normal range. The tallest adult male was 154 cm and the tallest female 145 cm. All patients have a depressed nasal bridge with midface hypoplasia, epicanthal folds, and frontal bossing; most have a short broad anteverted nose and mild prognathism. Most affected persons had an increased lumbar lordosis and generalized joint laxity. Several had limitation in elbow extension or rotation. Scoliosis was found in 2 sibs. Two patients had progressive infantile coxa vara. Avascular necrosis of the hip was seen in 2 patients. One patient had subglottic stenosis and bronchotracheomalacia. One patient had a human growth hormone (139250) deficiency that did not have a typical response to therapy with growth hormone. Langer et al. (1996) stated that the diagnosis depends on characteristic radiographic changes. The shape of the lumbar vertebral bodies is characteristically abnormal from birth through mid-adolescence. Characteristic changes of the distal tibia, fibula, radius, and ulna, and the proximal humerus and femur are described. Cooper et al. (2000) stated that 12 patients from 6 families had been reported; 4 additional patients had been reported with a variant that included mental retardation. They reported a new case in an 11-year-old boy. Offiah et al. (2001) reported a case of sponastrime dysplasia. Routine ultrasound scanning of the patient in utero revealed extreme limb shortening. At birth, the baby had midface hypoplasia with an upturned saddle nose with rhizomelic and mesomelic shortening of the upper and lower limbs. The hands and feet were short and broad, and there was marked joint laxity. At 4 months of age the child developed severe eczema and hypogammaglobulinemia, which was transient. Skeletal survey showed characteristic changes of the vertebral bodies, as previously described by Langer et al. (1996), along with a spannerlike appearance of the proximal femora, becoming less marked with time, and progressive development of coxa vara. The distal humeral metaphyses were flared, giving a bulbous appearance becoming more pronounced with time. The proximal humerus diaphyses also had an unusual appearance reminiscent of focal fibrocartilagenous dysplasia. The vertical metaphyseal striations present around the knee and in the distal radius did not appear until 5 years of age, prior to which Slaney et al. (1999) had diagnosed the child with a new syndrome of spondyloepimetaphyseal dysplasia, eczema, and hypogammaglobulinemia. Offiah et al. (2001) noted that only 1 previously reported case (Langer et al., 1996) had been diagnosed in infancy, but suggested that the association of midface hypoplasia, saddle nose, short stature due to short limbs, and radiographic features including the spannerlike appearance of the proximal femora, short curved femoral necks, and loss of the normal metaphyseal flare along with characteristic platyspondyly allowed this diagnosis to be made in infancy. Gripp et al. (2008) noted additional findings in 3 patients with sponastrime dysplasia; 2 brothers (cases 3 and 4) previously reported by Langer et al. (1996) and an unrelated case reported by Cooper et al. (2000). All 3 patients had short dental roots. One brother was diagnosed with bilateral posterior subcapsular cataracts at age 11. In addition, like the patient reported by Slaney et al. (1999) and Offiah et al. (2001), the 2 brothers had hypogammaglobulinemia. In a case of sponastrime dysplasia, Umpaichitra et al. (2002) found elevated urinary glycosaminoglycans and a lack of response to growth hormone. They suggested that the disorder may be caused by a defect in the synthesis of collagen.

Symptoms & Signs

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