Home > D. Systemic pathology > Genetic and developmental anomalies > hydrolethalus syndrome
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