Congenital contractural arachnodactyly

Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.

Start free with Eleplan

Congenital contractural arachnodactyly

ORPHA:115Malformation syndrome

Also called Beals syndrome · Beals-Hecht syndrome · CCA syndrome · Distal arthrogryposis type 9

What it is

A rare connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, kyphoscoliosis, abnormal pinnae and muscular hypoplasia.

Key facts

Age of onset
Neonatal
Inheritance
Autosomal dominant
Classified as
Malformation syndrome

Signs and symptoms

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

FBN2Disease-causing germline mutation(s)

ICD-10 codes

Q68.8filed under a broader ICD-10 category — shared with 29 other rare diseases

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

GARD 5899MESH C536211MONDO 0007363OMIM 121050UMLS C0220668

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.