X-linked skeletal dysplasia-intellectual disability syndrome

Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked.



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Narrow down the case reports



Total: 26 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(21.2%)		 10414115
 [Oral manifestations of Lpngerhans' cell histiocytosis. Therapeutic strategies involving oral and maxillofacial surgery].
Schultze A, Eckardt A, Kuske M.
Mund Kiefer Gesichtschir. 1999;3(3):158-64.
Osteolysis
Adult Females Histiocytosis, Langerhans-Cell Homo sapiens Male Mouth Diseases Oral Surgical Procedures
2
(20.4%)		 6215297
 [Isolated ilial tuberculosis and its differential diagnosis].
Richter R, Michels P.
Rofo. 1982;137(2):135-40.
Osteomyelitis
Adult Antitubercular Agents Differential Diagnosis Females Homo sapiens Male Middle Aged Tuberculosis, Osteoarticular
3
(17.5%)		 15738595
 [5- year old boy with Weber-Christian Syndrome or histiocytic cytophagic panniculitis? Diagnostic difficulties. Case presentation].
Raciborska A, Gadomski A, Wypych A, Maldyk J, Gutowska-Grzegorczyk G.
Med Wieku Rozwoj. 2004;8(2 Pt 1):201-8.
Pancytopenia Panniculitis
Child, Preschool Differential Diagnosis Fatal Outcome Histiocytosis Homo sapiens Male Pancytopenia Panniculitis Panniculitis, Nodular Nonsuppurative Time Factors
3
(17.5%)		 15188638
 [Successful treatment of Weber-Christian panniculitis with cyclosporin-A].
Kovacs M, Hafner J, Gabor V, Sipos J.
Orv Hetil. 2004;145(15):827-31.
Fever Panniculitis
Dermatologic Agents Differential Diagnosis Drug Administration Schedule Females Homo sapiens Panniculitis, Nodular Nonsuppurative
3
(17.5%)		 9545177
 Panniculitis due to potassium bromide.
Diener W, Sorni M, Ruile S, Rude P, Kruse R, Becker E, Bork K, Berg PA.
Brain Dev. 1998;20(2):83-7.
Subcutaneous nodule Panniculitis
Anticonvulsants Bromides Child Child, Preschool Epilepsy Females Homo sapiens Male Panniculitis Potassium Compounds Retrospective Studies Skin Ulcer
3
(17.5%)		 8720840
 [Acinar cell carcinoma of the pancreas revealed by Weber-Christian syndrome].
Foulet A, Copin MC, Jaillard S, Wurtz A, Gosselin B.
Ann Pathol. 1995;15(6):438-42.
Panniculitis
Acinar Cell Carcinoma Homo sapiens Male Middle Aged Pancreatic Neoplasm Panniculitis, Nodular Nonsuppurative
3
(17.5%)		 7424198
 [Fatal course of a fungal pneumonia in glucocorticoid-treated recurrent febrile nodular panniculitis; Pfeifer-Weber-Christian syndrome].
Lehnert M, Hofler H, Kerl H, Schmid P.
Z Rheumatol. 1980;39(1-2):46-53.
Pneumonia Panniculitis
Anti-Bacterial Agents Candidiasis Females Homo sapiens Middle Aged Panniculitis, Nodular Nonsuppurative Pneumonia
3
(17.5%)		 6868944
 [Pfeifer-Weber-Christian syndrome of the mesentery. Clinical and pathologico-anatomical aspects].
Schwab W, Hofstadter F.
Acta Med Austriaca. 1983;10(1):25-9.
Panniculitis
HLA-B
Adult Homo sapiens Male Mesentery Panniculitis, Nodular Nonsuppurative X-Ray Computed Tomography
3
(17.5%)		 3989012
 Fatal panniculitis.
Aronson IK, West DP, Variakojis D, Malkinson FD, Wilson HD, Zeitz HJ.
J Am Acad Dermatol. 1985;12(3):535-51.
Hepatic failure Panniculitis
Adult Child Child, Preschool Females Homo sapiens Infant Infant, Newborn Male Middle Aged Panniculitis, Nodular Nonsuppurative Skin Time Factors
3
(17.5%)		 3725481
 Ten-year course of early-onset Weber-Christian syndrome with recurrent pneumonia: a suggestion for pathogenesis.
Sorensen RU, Abramowsky CR, Stern RC.
Pediatrics. 1986;78(1):115-20.
Fever Panniculitis
Child Combined Modality Therapy Homo sapiens Leukocytosis Male Panniculitis, Nodular Nonsuppurative Pneumonia Skin
        

Phenotype(s) retrieved from Orphanet

    Total: 9

HPO ID Term Frequency
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0002650 Scoliosis Very frequent (99-80%)
HP:0002949 Fused cervical vertebrae Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0005107 Abnormal sacrum morphology Very frequent (99-80%)
HP:0005819 Short middle phalanx of finger Very frequent (99-80%)
HP:0008467 Thoracic hemivertebrae Very frequent (99-80%)
HP:0005978 Type II diabetes mellitus Frequent (79-30%)
HP:0002023 Anal atresia Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 10

HPO ID Term # of case reports
HP:0012490 Panniculitis 7
HP:0100727 Histiocytosis 2
HP:0000873 Diabetes insipidus 1
HP:0001945 Fever 1
HP:0001974 Leukocytosis 1
HP:0002090 Pneumonia 1
HP:0002754 Osteomyelitis 1
HP:0006280 Chronic pancreatitis 1
HP:0030731 Carcinoma 1
HP:0100242 Sarcoma 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID