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At a glance

An inherited disorder with marked hyperextensibility of the fingers and precocious osteoarthritis of the hips. Characteristically, the middle phalanges of the fingers resemble an “angel-shaped phalanx,” which results from a modification of the epiphysis, diaphysis, and metaphysis, resembling the little angels used to decorate a Christmas tree.

Synonym

Previously also referred to as Hereditary Peripheral Dysostosis.

Incidence

The exact incidence is unknown; however, less than 20 cases have been described.

Genetic inheritance

Most likely autosomal dominant.

Diagnosis

Based on the clinical and radiologic findings.

Clinical aspects

Birth length and weight are typically normal. Adult height can be short, normal or tall. The angel-shaped middle phalanges of fingers II to V result from a disturbance in the development of the epiphysis, diaphysis, and metaphysis resembling the little angels used to decorate Christmas trees. The wings are imitated by the diaphyseal cuff, the skirt by the cone-shaped epiphysis, and the head by the distal pseudoepiphysis. These characteristic changes progressively normalized in older children and finally simply resulted in shortness of the mesophalanx. Hyperextensible interphalangeal joints of the fingers affect almost all patients and approximately one-third to half of the patients have “swan neck deformities” of their fingers and pseudoclubbing with broad and short fingernails. Irregular epiphyses and a generalized delay in the ossification were noted. Precocious arthritis of the hips (coxarthrosis) with Perthes-like and disabling osteoarthritic changes leads to severe hip pain in the early thirties or even before. Abnormal dentition affects more than half of these patients (eg, late eruption of deciduous teeth, but normal permanent teeth, loss or persistence of deciduous teeth, and hypodontia).

Precautions before anesthesia

Assess severity of coxarthrosis to plan for positioning. Check for dental anomalies and take note of loose or damaged teeth.

Anesthetic considerations

Depending on the procedure and the severity of coxarthrosis, positioning may be difficult. Careful direct laryngoscopy is required to avoid dental injury in the presence of dental anomalies.

Pharmacological implications

None specific to this disorder.

Other conditions to be considered

  • Acrodysostosis Syndrome (Arkless-Graham Syndrome; Maroteaux-Malamut Syndrome): Short hands, feet, and stature. The distinct facies is characterized by prominent mandible, small, broad, upturned nose with flat nasal bridge, and small mouth. Other features include skin, genital, dental, and musculoskeletal abnormalities. Mental retardation is present in 90% of children and can be severe.

  • Pseudohypoparathyroidism: Disorder characterized by renal and/or bony anomalies caused by insensitivity to parathyroid hormone.

  • Tricho-Rhino-Phalangeal Dysplasia Type I (TRPS I): Syndrome characterized by facial anomalies (bulbous nose), cone-shaped epiphyses, high-arched palate, and horizontal groove on the chin. Hypoplastic nails and short metacarpals and metatarsal ...

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