Malformation syndrome with skin/mucosae involvement Lethal restrictive dermopathy OMIM:275210 ICD10:Q82.8 UMLS:C0406585 orphanet Lethal tight skin contracture syndrome is characterized by the skin being drawn tightly over the face causing a narrow, pinched nose, small mouth, limited jaw mobility, and entropion. Ears are malformed, with the auricle attached to the skin of scalp. No typical visceral malformations have been reported. Severe and constant intrauterine growth retardation is observed as well as multiple joint contractures, and rigid and tense skin is easily eroded with fissures in the axilla and neck. Superficial vasculature is prominent, nails may be short or very long. Eyelashes, eyebrows and lanugo are sparse or absent. Head hair may be normal. Associated features are pulmonary hypoplasia due to increased anterio-posterior diameter of the chest, abnormal placenta, and short umbilical cord. Other described anomalies include neonatal teeth, enlarged fontanelles, choanal atresia, cleft of primary or secondary palate, narrow palpebral fissures, hypospadias, ureteral duplication, thoracic kyphoscoliosis, adrenal hypoplasia, and cardiovascular anomalies like patent ductus arteriosus and atrial septal defect. A wide ascending aorta and dextrocardia is present in some patients. Polyhydramnios is frequent, and delivery often occurs prematurely. Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability