Short-Rib Polydactyly Syndrome (SRPS)
Majewski’s polydactyly syndrome, also known as polydactyly with neonatal chondrodystrophy type I, short rib-polydactyly syndrome type II, and shorts rib-polydactyly syndrome, is a lethal form of neonatal dwarfism characterized by osteochondrodysplasia (skeletal abnormalities in the development of bone and cartilage) with a narrow thorax, polysyndactyly, disproportionately short tibiae, thorax dysplasia, hypoplastic lungs and respiratory insufficiency. Associated anomalies include protruding abdomen, brachydactyly, peculiar faces, hypoplastic epiglottis, cardiovascular defects, renal cysts, and also genital anomalies. Death occurs before or at birth.
The disease is inherited in an autosomal recessive pattern.
It was characterized in 1971.[1]
Glossary Quick Search
Acardiac Twin
Achondrogenesis
Acrania
Agenesis of the Corpus Callosum
Amelia
Amniocentesis
Amniotic Band Syndrome
Anembryonic Pregnancy
Anencephaly
Aneuploidy
Aneuploidy Screening
Anhydramnios
Antenatal Surveillance
Aqueductal Stenosis
Arthrogryposis
Asphyxiating Thoracic Dystrophy (ATD)
Atelosteogenesis Type 2
Atrial Septal Defect
Autosomal Recessive
Autosomal Dominant
Atrioventricular Septal Defect (AVSD)
Camptomelic Dysplasia
Cardiac Rhabdomyoma
Carrier Screening
Caudal Regression Syndrome
Cell Free DNA
Chiari Malformation
Chloacal Anomaly
Chorionic Villus Sampling (CVS)
Choroid Plexus Cyst
Chromosomal Deletion
Chromosomal Duplication
Chromosomal Translocation
Chromosomes
Cleft Lip
Cleft Palate
Comfort Care
Congenital
Congenital Chylothorax
Congenital Heart Defect
Congenital High Airway Obstruction Syndrome (CHAOS)
Congenital Scoliosis
Craniopagus Conjoined Twins
Criss-Cross Heart
Cyanotic Heart Disease
Cystic Hygroma
Cytomegalovirus (CMV)
Pallister Killian Syndrome
Pediatric Hospice
Pediatric Paliative Care
Pena-Shokeir Syndrome
Pentalogy of Cantrell
Percutaneous Umbilical Blood Sampling (PUBS)
Pericardial Effusion
Perinatal Hospice
Perinatal Loss
Perinatal Palliative Care
Perinatal Period
Pleural Effusion
Polycystic Kidney Disease
Polyhydramnios
Porencephaly
Positive Predictive Value
Potter Syndrome
Pregnancy Continuation
Pregnancy Loss
Pregnancy Termination
Prenatal Diagnosis
Pulmonary Hypoplasia