Name Short-Rib Thoracic Dysplasia 12

Synonyms BEEMER-LANGER SYNDROME , SHORT RIB SYNDROME, BEEMER TYPE , SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4 , SRPS IV

Classification bone, developmental, genetic, respiratory

Phenotypes Abnormality of the pinna; Ambiguous genitalia; Anencephaly; Ascites; Atelectasis; Autosomal recessive inheritance; Bowing of the arm; Bowing of the legs; Brachydactyly; Broad foot; Broad palm; Cystic renal dysplasia; Edema; Epicanthus; Flat face; Hamartoma of tongue; Hepatomegaly; High forehead; Holoprosencephaly; Horizontal ribs; Hydrocephalus; Hypertelorism; Hypoplastic nipples; Hypoplastic scapulae; Inguinal hernia; Intestinal malrotation; Intrauterine growth retardation; Limb undergrowth; Lobulated tongue; Low-set ears; Macrocephaly; Median cleft lip and palate; Narrow chest; Natal tooth; Neonatal death; Omphalocele; Patent ductus arteriosus; Patent foramen ovale; Periportal fibrosis; Polyhydramnios; Posteriorly rotated ears; Protuberant abdomen; Pulmonary hypoplasia; Renal hypoplasia; Respiratory insufficiency; Short finger; Short foot; Short long bone; Short neck; Short palm; Short ribs; Short thorax; Short toe; Splenomegaly; Thoracic dysplasia; Ventricular septal defect; Wide intermamillary distance

Associated Genes -

Mouse Orthologs -

Source OMIM:269860 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)