Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanRoberts syndrome
ORPHA:3103Malformation syndrome
Also called Pseudothalidomide syndrome · Roberts-SC phocomelia syndrome · SC phocomelia · SC pseudothalidomide syndrome
What it is
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of highly variable limb reduction defects affecting both upper and lower limbs, growth retardation, microcephaly, craniofacial anomalies and variable neurodevelopmental delay.
Key facts
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Signs and symptoms
Very common80–99%
18- Abnormality of the upper limb
- Aplasia/Hypoplasia of the thumb
- Bowing of the long bones
- Brachycephaly
- Clinodactyly of the 5th finger
- Complete duplication of thumb phalanx
- Hypertelorism
- Hypoplasia of the radius
- Malar flattening
- Mesomelic arm shortening
- Microcephaly
- Phocomelia
- Postnatal growth retardation
- Proximal placement of thumb
- Radial deviation of finger
- Severe intrauterine growth retardation
- Sparse hair
- Underdeveloped nasal alae
Common30–79%
18- Abnormal cardiovascular system morphology
- Abnormal pinna morphology
- Absent earlobe
- Brachydactyly
- Cataract
- Cleft palate
- Cleft upper lip
- Clitoral hypertrophy
- Cryptorchidism
- Global developmental delay
- Intellectual disability
- Long penis
- Micrognathia
- Midface capillary hemangioma
- Premature birth
- Proptosis
- Radioulnar synostosis
- Underdeveloped supraorbital ridges
Sometimes5–29%
18- Bilateral single transverse palmar creases
- Blue sclerae
- Craniosynostosis
- Finger syndactyly
- Glaucoma
- High palate
- Knee flexion contracture
- Microphthalmia
and 10 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.
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.