Pelvis-shoulder dysplasia

Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.



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Narrow down the case reports



Total: 2 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(31.4%)		 16025020
 Complete bilateral agenesis of the ilium in a 7-year-old ambulatory girl: case report.
Mac-Thiong JM, Leduc S, Labelle H.
Spine (Phila Pa 1976). 2005;30(14):E420-3.
Waddling gait Hip dislocation Lumbar hyperlordosis
Child Dysostoses Females Gait Hip Joint Homo sapiens Lordosis Magnetic Resonance Imaging Postural Balance
2
(21.2%)		 263510
 Pelvis-shoulder dysplasia.
Thomas PS, Reid MM, McCurdy AM.
Pediatr Radiol. 1977;5(4):219-23.
Waddling gait Skeletal dysplasia
Bone Diseases, Developmental Child, Preschool Females Homo sapiens Lordosis Pelvic Bones
        

Phenotype(s) retrieved from Orphanet

    Total: 41

HPO ID Term Frequency
HP:0005775 Multiple skeletal anomalies Very frequent (99-80%)
HP:0000062 Ambiguous genitalia Frequent (79-30%)
HP:0000126 Hydronephrosis Frequent (79-30%)
HP:0000171 Microglossia Frequent (79-30%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000238 Hydrocephalus Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000480 Retinal coloboma Frequent (79-30%)
HP:0000482 Microcornea Frequent (79-30%)
HP:0000612 Iris coloboma Frequent (79-30%)
HP:0000890 Long clavicles Frequent (79-30%)
HP:0001159 Syndactyly Frequent (79-30%)
HP:0001591 Bell-shaped thorax Frequent (79-30%)
HP:0001762 Talipes equinovarus Frequent (79-30%)
HP:0002324 Hydranencephaly Frequent (79-30%)
HP:0002414 Spina bifida Frequent (79-30%)
HP:0002515 Waddling gait Frequent (79-30%)
HP:0002938 Lumbar hyperlordosis Frequent (79-30%)
HP:0003083 Dislocated radial head Frequent (79-30%)
HP:0003173 Hypoplastic pubic bone Frequent (79-30%)
HP:0003175 Hypoplastic ischia Frequent (79-30%)
HP:0003312 Abnormal form of the vertebral bodies Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0005026 Mesomelic/rhizomelic limb shortening Frequent (79-30%)
HP:0005613 Aplasia/hypoplasia of the femur Frequent (79-30%)
HP:0005769 Fifth finger distal phalanx clinodactyly Frequent (79-30%)
HP:0006077 Absent proximal finger flexion creases Frequent (79-30%)
HP:0006492 Aplasia/Hypoplasia of the fibula Frequent (79-30%)
HP:0006710 Aplasia/Hypoplasia of the clavicles Frequent (79-30%)
HP:0006712 Aplasia/Hypoplasia of the ribs Frequent (79-30%)
HP:0006713 Aplasia/Hypoplasia of the scapulae Frequent (79-30%)
HP:0007633 Bilateral microphthalmos Frequent (79-30%)
HP:0008472 Prominent protruding coccyx Frequent (79-30%)
HP:0008551 Microtia Frequent (79-30%)
HP:0008807 Acetabular dysplasia Frequent (79-30%)
HP:0008857 Neonatal short-trunk short stature Frequent (79-30%)
HP:0009100 Thick anterior alveolar ridges Frequent (79-30%)
HP:0009937 Facial hirsutism Frequent (79-30%)
HP:0012745 Short palpebral fissure Frequent (79-30%)
HP:0040111 Bilateral external ear deformity Frequent (79-30%)
HP:0100490 Camptodactyly of finger Frequent (79-30%)


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