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hydrolethalus syndrome

MIM.236680

Wednesday 25 May 2005

Autosomal recessive malformative syndrome.

Synospsis

- Intrauterine growth retardation
- Micrognathia
- Malformed ears
- Low-set ears
- Microphthalmia
- Bifid nose
- Cleft palate
- Lateral or midline cleft lip
- Lower lip cleft
- Broad neck
- Atrioventricular canal
- Ventricular septal defect
- Hypoplastic larynx
- Tracheal stenosis
- Bronchial stenosis
- Defective lobation
- Pulmonary agenesis
- Agenesis of diaphragm
- Omphalocele
- Accessory spleen
- Incomplete bowel rotation
- Hypospadias
- Duplicated uterus
- Vaginal malformation
- Hydronephrosis
- Cleft in skull base
- ’Key hole-shaped’ deformity of base of skull (occipitoschisis)
- Proximal tibial hypopolasia
- Postaxial polydactyly
- Preaxial polydactyly
- Club feet
- Hallux duplication
- Severe prenatal onset hydrocephalus
- Absent corpus callosum
- Absent septum pellucidum
- Absent pituitary
- Arhinencephaly
- Anencephaly
- Cerebral gyral anomalies
- Cerebellar heterotopias
- Dandy-Walker anomaly
- Dysplastic adrenal glands
- Polyhydramnios