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Jeune syndrome
7 OMIM references -
9 associated genes
29 connected diseases
25 signs/symptoms
Disease Type of connection
Short rib-polydactyly syndrome, Verma-Naumoff type
Saldino-Mainzer syndrome
Cranioectodermal dysplasia
Infantile autosomal recessive medullary cystic kidney disease
Juvenile autosomal recessive medullary cystic kidney disease
Meckel syndrome
Short rib-polydactyly syndrome, Majewski type
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Retinitis pigmentosa
Non-acquired combined pituitary hormone deficiency with spine abnormalities
Pituitary stalk interruption syndrome
Short stature - pituitary and cerebellar defects - small sella turcica
Autosomal dominant hypohidrotic ectodermal dysplasia
Acute necrotizing encephalopathy of childhood
Autosomal dominant cutis laxa
Autosomal recessive cutis laxa type 1
Cobblestone lissencephaly without muscular or ocular involvement
Congenital dyserythropoietic anemia type II
Familial acute necrotizing encephalopathy
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Hereditary sensorimotor neuropathy with hyperelastic skin
Inflammatory myofibroblastic tumor
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Achromatopsia
Cone rod dystrophy
Primary ciliary dyskinesia
Primary ciliary dyskinesia - retinitis pigmentosa
Synonym(s):
- Asphyxiating thoracic dystrophy of the newborn
- JATD
- Jeune asphyxiating thoracic dystrophy
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease
- Rare respiratory disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal recessive
External references:
7 OMIM references -
1 MeSH reference: C537571
Very frequent
- Autosomal recessive inheritance
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Narrow rib cage / thorax
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Rib structure anomalies
- Short limbs / micromelia / brachymelia
- Short rib cage / thorax

Frequent
- Clavicle absent / abnormal
- Cone epiphyses / epiphysis
- Metaphyseal anomaly
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Sternal / sternum anomalies

Occasional
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hepatitis / icterus / cholestasis
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Postaxial polydactyly (hand)
- Postaxial polydactyly of toes / fifth supernumerary toe
- Renal disease / nephropathy
- Renal failure
- Retinitis pigmentosa / retinal pigmentary changes
- Short stature / dwarfism / nanism
- Stillbirth / neonatal death
- Syndactyly of toes