Jackson-Weiss syndrome

Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.



Input patient's signs and symptoms


Narrow down the case reports



Total: 2 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(43.1%)		 9406252
 A 19-week-old fetus with craniosynostosis, renal agenesis and gastroschisis: case report and differential diagnosis.
Sergi C, Stein H, Heep JG, Otto HF.
Pathol Res Pract. 1997;193(8):579-85; discussion 587-8.
Shallow orbits
Abdominal Muscles Craniofacial Abnormalities Craniosynostosis Differential Diagnosis Fetal Diseases Gestational Age Homo sapiens Infant, Newborn Kidney Preterm Infant
2
(35.3%)		 10861678
 Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.
Roscioli T, Flanagan S, Kumar P, Masel J, Gattas M, Hyland VJ, Glass IA.
Am J Med Genet. 2000;93(1):22-8.
Brachydactyly
FGFR1 FGFR3
p|SUB|P|252|R;RS#:121909627 rs121909627 rs4647924
Base Sequence Child DNA Primers Facies Females Fibroblast Growth Factor Receptor 1 Fibroblast Growth Factor Receptors Homo sapiens Missense Mutation Osteochondrodysplasias Receptor Protein-Tyrosine Kinases Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 21

HPO ID Term Frequency
HP:0000262 Turricephaly Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0001770 Toe syndactyly Very frequent (99-80%)
HP:0001783 Broad metatarsal Very frequent (99-80%)
HP:0010059 Broad hallux phalanx Very frequent (99-80%)
HP:0010743 Short metatarsal Very frequent (99-80%)
HP:0011800 Midface retrusion Very frequent (99-80%)
HP:0000174 Abnormal palate morphology Frequent (79-30%)
HP:0000303 Mandibular prognathia Frequent (79-30%)
HP:0000327 Hypoplasia of the maxilla Frequent (79-30%)
HP:0000444 Convex nasal ridge Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000508 Ptosis Frequent (79-30%)
HP:0000520 Proptosis Frequent (79-30%)
HP:0002007 Frontal bossing Frequent (79-30%)
HP:0009891 Underdeveloped supraorbital ridges Frequent (79-30%)
HP:0001839 Split foot Occasional (29-5%)
HP:0001841 Preaxial foot polydactyly Occasional (29-5%)
HP:0002991 Abnormality of fibula morphology Occasional (29-5%)
HP:0004691 2-3 toe syndactyly Occasional (29-5%)
HP:0009773 Symphalangism affecting the phalanges of the hand Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
FGFR2 fibroblast growth factor receptor 2 2263