ALTERNATE NAMES

Autosomal Dominant Turnpenny-Fry Syndrome; Autosomal Turnpenny-Fry Syndrome; Neurocardioskeletal Syndrome; TPFS; Turnpenny Fry Syndrome

DESCRIPTION

Turnpenny-Fry syndrome (TPFS) is a rare developmental disorder caused by mutations in the PCGF2 gene. It affects multiple body systems and is characterized by developmental delay, intellectual disability, impaired growth, and a recognizable facial appearance.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: TPFS is typically diagnosed based on clinical features and genetic testing confirming the presence of mutations in the PCGF2 gene.

Physical findings: Signs and symptoms of TPFS may include:

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  Prominent forehead;

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  Flat cheek bones;

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  Small eye fissures (space between the upper and lower eyelids);

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  Small mouth;

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  Sparse hair;

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  Low birth weight;

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  Developmental delays;

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  Delayed or absent speech;

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  Heart defects; and

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  Skeletal abnormalities.

Other possible signs and symptoms of TPFS may include:

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  Seizures;

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  Hearing loss;

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  Feeding difficulties;

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  An increased risk of leukemia; and

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  Constipation.

ICD-9: 759.89

ICD-10: Q89.8

PROGRESSION

The prognosis for children with TPFS varies depending on the severity of their symptoms. Some children may have a relatively mild form of the disorder, while others may face significant challenges. With proper care and support, many children with TPFS can live fulfilling lives.

TREATMENT

There is no cure for TPFS. Treatment focuses on managing the symptoms and improving quality of life. This may include supportive therapies such as speech and language therapy, physiotherapy, and occupational therapy. Seizures and other health issues are managed with medication. Heart defects or skeletal abnormalities may be corrected with surgery. Families may undergo genetic counseling.

Suggested MER for Evaluation:

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  Clinical history and examination that describes the clinical features of the impairment; and

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  Genetic testing confirming the presence of PCGF2 gene mutations.

Suggested Listings for Evaluation:

Meets

101.18

101.24

102.10

102.11

110.08 B

111.02

111.09

112.05

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