Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanFryns syndrome
ORPHA:2059Malformation syndrome
Also called Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome
What it is
A rare multiple congenital anomaly syndrome characterized by congenital diaphragmatic hernia (CDH) and pulmonary hypoplasia, distal limb hypoplasia and facial anomalies in addition to variable expression of additional birth defects.
Key facts
- Prevalence
- 1-9 / 100 000 (at birth, Europe)
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
15- Aplasia/Hypoplasia of the nipples
- Broad forehead
- Congenital diaphragmatic hernia
- High palate
- Hypoplastic fingernail
- Intellectual disability
- Long philtrum
- Micrognathia
- Multicystic kidney dysplasia
- Posteriorly rotated ears
- Pulmonary hypoplasia
- Severe global developmental delay
- Short neck
- Tented upper lip vermilion
- Wide nasal bridge
Common30–79%
20- Abnormal cardiac septum morphology
- Agenesis of corpus callosum
- Anteverted nares
- Cerebral cortical atrophy
- Cleft palate
- Clinodactyly of the 5th finger
- Coarse facial features
- Corneal opacity
- Cryptorchidism
- Hypertelorism
- Median cleft lip
- Non-midline cleft of the upper lip
- Polyhydramnios
- Seizure
- Short distal phalanx of finger
- Tetralogy of Fallot
- Thickened nuchal skin fold
- Ventriculomegaly
- Wide intermamillary distance
- Wide mouth
Sometimes5–29%
16- Abnormal aortic arch morphology
- Abnormal aortic morphology
- Aganglionic megacolon
- Anal atresia
- Bicornuate uterus
- Dandy-Walker malformation
- Duodenal atresia
- Ectopic anus
and 8 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.