Fryns syndrome
MIM.229850
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Fryns syndrome (FS) is the commonest autosomal recessive syndrome associated with congenital diaphragmatic hernia (CDH) and comprises CDH, pulmonary hypoplasia, craniofacial anomalies, distal limb hypoplasia, and internal malformations.
Majority are stillborn or die in early neonatal period. 14% of patients survive with polyhydramnios. Autosomal recessive inheritance.
Synopsis (MIM.229850)
Large for gestational age
craniofacial anomalies
- coarse facies
- microretrognathia
- abnormal helices
- cloudy cornea
- microphthalmia
- broad nasal bridge
- anteverted nares
- macrostomia
- orofacial clefting (cleft lip, cleft palate)
- short broad neck
cardiovascular anomalies
- ventricular septal defect
- atrial septal defect
- aortic arch anomalies
pulmonary anomalies
- pulmonary lobation defect
- pulmonary hypoplasia
thoracic anomalies
- small thorax
- chylothorax
- broad medial ends of clavicle
congenital diaphragmatic hernia (often unilateral)
abdominal anomalies
- ectopic pancreatic tissue
- multiple accessory spleens
- intestinal malrotation
- omphalocele
- esophageal atresia
- Meckel diverticulum
- duodenal atresia
- aganglionosis of colon
- imperforate anus
male reproductive system
female reproductive system
- bicornuate uterus
- uterine atresia
- cervical atresia
renal anomalies
- hydronephrosis
- dilatation of the ureters
- renal agenesis
- renal cysts
- renal dysplasia
Hands
- brachytelephalangy (acral hypoplasia or distal digital hypoplasia or short terminal phalanges)
- prominent fingertip pads
- camptodactyly
- thumb anomalies (proximal thumbs)
- single transverse palmar crease
distal limb hypoplasia
broad clavicles
Skin
- prominent fingertip pads
- single transverse palmar crease
- hypoplastic nails, nail hypoplasia
- nail agenesis (absent nails)
Central nervous system
- mental retardation in survivors
- Dandy-Walker malformation (11807905)
- agenesis of the corpus callosum
- arrhinencephaly
- hypoplasia of the optic tract
- hypoplasia of olfactory tract
- ventricular dilatation or hydrocephalus
- agenesis of the corpus callosum
- neuronal or cerebellar heterotopias
Variants
Fryns syndrome in monozygotic twins (17384863)
Cytogenetics
mosaicism for a tandem duplication of 1q24-q31.2
anomalies of chromosome 15 (ring chromosome 15)
15q26.2 microdeletions (16141010)
8p23.1 microdeletions (16141010)
anomalies of chromosome 6 (terminal deletion of 6q)
anomalies of chromosome 22
aneuploidy
References
Slavotinek AM. Fryns syndrome: a review of the phenotype and diagnostic guidelines. Am J Med Genet. 2004 Feb 1;124A(4):427-33. PMID: 14735597
Witters I, Devriendt K, Spinnewijn D, Moerman P, Van Assche FA, Fryns JP. MCA syndrome with renal-hepatic-pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and Mullerian duct anomalies. Am J Med Genet. 2002 Jan 22;107(3):233-6. PMID: 11807905
Pierson DM, Subtil A, Taboada E, Butler MG. Newborn with anophthalmia and features of Fryns syndrome. Pediatr Dev Pathol. 2002 Nov-Dec;5(6):592-6. PMID: 12375132
Ayme S, Julian C, Gambarelli D, Mariotti B, Luciani A, Sudan N, Maurin N, Philip N, Serville F, Carles D, et al. Fryns syndrome: report on 8 new cases. Clin Genet. 1989 Mar;35(3):191-201. PMID: 2650934