brachydactyly or Short, stubby fingers and toes; digits are shorter than normal due to abnormal bone

Описание: Brachydactyly literally means “short fingers and toes” and refers to a group of congenital conditions where the bones of the digits are abnormally short, giving a stubby appearance. It can occur as an isolated trait or as part of a genetic syndrome.

🔎 Definition
Brachydactyly: A hereditary malformation characterized by shortening of the phalanges, metacarpals, or metatarsals due to abnormal bone development.

Appearance: Fingers and/or toes look short and stubby.

⚠️ Causes
Genetic mutations: Often autosomal dominant inheritance.

Isolated trait: May occur without other abnormalities.

Syndromic association: Seen in conditions such as:

Down syndrome

Turner syndrome

Albright hereditary osteodystrophy

Pseudohypoparathyroidism

Multiple epiphyseal dysplasia

🧪 Classification (Types of Brachydactyly)
Type A: Shortening of middle phalanges.

Type B: Absence or hypoplasia of terminal phalanges/nails.

Type C: Shortening of middle phalanges of 2nd, 3rd, 5th fingers.

Type D: Short, broad thumbs (“clubbed thumbs”).

Type E: Shortening of metacarpals/metatarsals.

🩺 Clinical Features
Physical: Short, stubby fingers and toes; sometimes broad nails.

Functional impact: Usually minimal, but may affect fine motor skills if severe.

Associated findings: Depending on syndrome, may include short stature, endocrine abnormalities, or skeletal dysplasia.

💊 Management
Isolated brachydactyly: Usually requires no treatment.

Functional impairment: Orthopedic or surgical correction in rare severe cases.

Syndromic cases: Management focuses on the underlying disorder (e.g., hormone therapy in pseudohypoparathyroidism).

Genetic counseling: Important for families with inherited forms.

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