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Congenital contractural arachnodactyly (CCA) or Beals–Hecht syndrome (BHS) presents a rare connective tissue disorder characterized by narrow body habitus, crumpled ears, arachnodactyly, contractures, and scoliosis. Severe thoracic cage abnormalities may be associated with restrictive lung disease in this syndrome.

https://doi.org/10.1007/s00508-013-0358-7

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Etiology

Gene involved: FBN2 (fibrillin-2)
Chromosome location: 5q23–q31
Inheritance: Autosomal dominant
Pathophysiology: Abnormal microfibril formation during fetal development affecting cartilage, tendons, and connective tissue → contractures and skeletal abnormalities

Clinical Features

Musculoskeletal manifestations

Features	Manifestations
Arachnodactyly	Long, slender fingers and toes
Congenital joint contractures	Especially elbows, knees, fingers
Camptodactyly	Permanent flexion of fingers
Kyphoscoliosis	Present at birth or develops early
Pectus deformity	Carinatum or excavatum
Muscle hypoplasia	Thin extremities

![Photographs of the female patient with biallelic FBN2 variants at the age of 12 (a, b, c) and 15 years (d, e). (a, b) Photographs of both hands of the patient, prior to surgery: arachnodactyly of both hands, camptodactyly affecting all fingers, contractures of the proximal intraphalangeal joints of fingers II, III, IV and V; most prominent in finger III on the left hand and finger V on the right hand. (c) X-ray of the left finger III of the patient: arachnodactyly with long, slender bones, normal joint space. (d) Photograph of the left ear of the patient: External ear anomalies with a slightly “crumpled” aspect, the ear has unfolded but the helical crus and inferior crus of the antihelix remain prominent. Arrow points to a preauricular pit. (e) Photograph of the right foot of the patient: arachnodactyly with long, slender toes, mild contractures of toes III and IV.

Kloth K, Neu A, Rau I, Hülsemann W, Kutsche K, Volk AE. Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2. European Journal of Medical Genetics. 2021;64(3):104161. doi:https://doi.org/10.1016/j.ejmg.2021.104161](attachment:97317e81-967b-4f9e-83a7-3b6422fc8bc0:1-s2.0-S1769721221000276-gr2.jpg)

Photographs of the female patient with biallelic FBN2 variants at the age of 12 (a, b, c) and 15 years (d, e). (a, b) Photographs of both hands of the patient, prior to surgery: arachnodactyly of both hands, camptodactyly affecting all fingers, contractures of the proximal intraphalangeal joints of fingers II, III, IV and V; most prominent in finger III on the left hand and finger V on the right hand. (c) X-ray of the left finger III of the patient: arachnodactyly with long, slender bones, normal joint space. (d) Photograph of the left ear of the patient: External ear anomalies with a slightly “crumpled” aspect, the ear has unfolded but the helical crus and inferior crus of the antihelix remain prominent. Arrow points to a preauricular pit. (e) Photograph of the right foot of the patient: arachnodactyly with long, slender toes, mild contractures of toes III and IV.

Craniofacial manifestations:

Crumbled (“crumpled”) helix of external ear (PATHOGNOMIC)
High-arched palate

![Pictures of a baby with CCA after birth. (A) The baby holds her hands tightly. The index finger and ring finger are folded over the middle finger. The thumb is adducted. (B) The baby’s ear is crumpled. All photographs are provided after written informed consent by the patient’s mother.

Miyake R, Ichikawa M, Naruse KCongenital contractural arachnodactyly suspected by abnormally long extremities by fetal ultrasoundBMJ Case Reports CP 2021;**14:**e237904.](attachment:35f1b889-6c77-461c-8107-05ecbd83c379:bmjcr-2021-March-14-3--F3.large.jpg)

Pictures of a baby with CCA after birth. (A) The baby holds her hands tightly. The index finger and ring finger are folded over the middle finger. The thumb is adducted. (B) The baby’s ear is crumpled. All photographs are provided after written informed consent by the patient’s mother.

Miyake R, Ichikawa M, Naruse KCongenital contractural arachnodactyly suspected by abnormally long extremities by fetal ultrasoundBMJ Case Reports CP 2021;**14:**e237904.

Ocular manifestations:

No ectopia lentis (unlike Marfan)

![Fundus examination. A) Retinography showing disciform-like scar RE and juxtafoveal fibrovascular proliferation LE. B) Angiogram showing predominantly classic choroidal neovascular membrane (CNV). C) Spectral-domain optical coherence tomography (SD-OCT) images showing the subretinal choroidal neovascular membrane inducing loss of foveal anatomy. D) SD-OCT images showing complete resolution of the retinal edema and normalization of the foveal anatomy after three monthly intravitreal ranibizumab injections.

Gallego-Pinazo, R., López-Lizcano, R., Millán, J. M., Arevalo, J. F., Mullor, J. L., & Díaz-Llopis, M. (2010). Beals–Hecht syndrome and choroidal neovascularization. Clinical Ophthalmology, 4, 845–847. https://doi.org/10.2147/opth.s11685](attachment:6bd3385c-11da-425c-9003-729ea1bb453c:doph_a_11685_f0002_c.jpg)

Fundus examination. A) Retinography showing disciform-like scar RE and juxtafoveal fibrovascular proliferation LE. B) Angiogram showing predominantly classic choroidal neovascular membrane (CNV). C) Spectral-domain optical coherence tomography (SD-OCT) images showing the subretinal choroidal neovascular membrane inducing loss of foveal anatomy. D) SD-OCT images showing complete resolution of the retinal edema and normalization of the foveal anatomy after three monthly intravitreal ranibizumab injections.

Cardiovascular manifestations: