Axial spondylometaphyseal dysplasia

Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxtatruncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora.



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Narrow down the case reports



Total: 4 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(43.4%)		 21910225
 Axial spondylometaphyseal dysplasia: additional reports.
Suzuki S, Kim OH, Makita Y, Saito T, Lim GY, Cho TJ, Al-Swaid A, Alrasheed S, Sadoon E, Miyazaki O, Nishina S, Superti-Furga A, Unger S, Fujieda K, Ikegawa S, Nishimura G.
Am J Med Genet A. 2011;155A(10):2521-8.
Retinal degeneration Short ribs Metaphyseal irregularity
SNRPN
rs1131690800 rs763623409
Child Child, Preschool Differential Diagnosis Females Genes, Recessive Homo sapiens Infant Male Osteochondrodysplasias Retinal Diseases
2
(43.2%)		 28123176
 Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.
Wang Z, Horemuzova E, Iida A, Guo L, Liu Y, Matsumoto N, Nishimura G, Nordgren A, Miyake N, Tham E, Grigelioniene G, Ikegawa S.
J Hum Genet. 2017;62(4):503-506.
Short ribs
CFAP410 NEK1
c|SUB|A|3830|C c|SUB|C|3107|G;RS#:199947197 p|SUB|D|1277|A p|S|1036|*;RS#:199947197 rs1157065841 rs199947197
Child Cytoskeletal Proteins Genetic Association Studies Homo sapiens Male Mutation NIMA-Related Kinase 1 Osteochondrodysplasias Proteins
3
(23.3%)		 9266195
 Axial spondylometaphyseal dysplasia.
Ehara S, Kim OH, Maisawa S, Takasago Y, Nishimura G.
Eur J Pediatr. 1997;156(8):627-30.
Optic atrophy Platyspondyly
Bone and Bones Child Child, Preschool Females Homo sapiens Male Osteochondrodysplasias Syndrome
4
(4.0%)		 20503334
 Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy.
Isidor B, Baron S, Khau van Kien P, Bertrand AM, David A, Le Merrer M.
Am J Med Genet A. 2010;152A(6):1550-4.
Short stature
rs778222701
Child Femur Growth Disorders Homo sapiens Male Osteochondrodysplasias Retinal Degeneration Retinitis Pigmentosa Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 21

HPO ID Term Frequency
HP:0000505 Visual impairment Very frequent (99-80%)
HP:0000510 Rod-cone dystrophy Very frequent (99-80%)
HP:0000887 Cupped ribs Very frequent (99-80%)
HP:0000926 Platyspondyly Very frequent (99-80%)
HP:0000944 Abnormality of the metaphysis Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0008905 Rhizomelia Very frequent (99-80%)
HP:0000648 Optic atrophy Frequent (79-30%)
HP:0002007 Frontal bossing Frequent (79-30%)
HP:0003411 Proximal femoral metaphyseal irregularity Frequent (79-30%)
HP:0003796 Irregular iliac crest Frequent (79-30%)
HP:0005257 Thoracic hypoplasia Frequent (79-30%)
HP:0000316 Hypertelorism Occasional (29-5%)
HP:0000463 Anteverted nares Occasional (29-5%)
HP:0000483 Astigmatism Occasional (29-5%)
HP:0000494 Downslanted palpebral fissures Occasional (29-5%)
HP:0000506 Telecanthus Occasional (29-5%)
HP:0000520 Proptosis Occasional (29-5%)
HP:0000613 Photophobia Occasional (29-5%)
HP:0003196 Short nose Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0002652 Skeletal dysplasia 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID