Filippi syndrome

Alternate names

Syndactyly type I with microcephaly and mental retardation; Unusual facial appearance, microcephaly, growth and mental retardation and syndactyly; Type 1 syndactyly-microcephaly-intellectual disability syndrome

Definition

Filippi syndrome is present at birth and impacts the development of the head, face, and limbs.

Epidemiology

There have been about 30 cases of Filippi syndrome reported in the medical literature. It is unclear exactly how many people have Filippi syndrome.

Cause

• Filippi syndrome occurs when the CKAP2L gene is not working correct.
• DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.

Inheritance

Autosomal recessive inheritance, a 25% chance

• Filippi syndrome is inherited in an autosomal recessive pattern. All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must have a pathogenic variant to have the condition.
• People with autosomal recessive conditions inherit one variant from each of their parents. The parents, who each have one gene variant, are known as carriers. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, there is a 25% (1 in 4) chance to have a child with the condition.

Signs and symptoms

Symptoms may include:

• Small head size
• Webbing or fusion of the fingers and/or toes (syndactyly)
• Distinctive facial features with a small chin (micrognathia)
• Intellectual disability
• Speech delay
• Growth delay
• Growth delays typically start before birth and older individuals with Filippi syndrome may be shorter than average.
• Other symptoms have been reported in Filippi syndrome including dental abnormalities, vision problems, extra fingers and toes, and seizures.
• Because few people with this condition have been reported, it is not clear how this condition changes over time.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Aphasia(Difficulty finding words)
• Clinodactyly of the 5th finger(Permanent curving of the pinkie finger)
• Cryptorchidism(Undescended testes)
• Dysphasia
• Echolalia(Echoing another person's speech)
• Global developmental delay
• Intellectual disability(Mental deficiency)
• Microcephaly(Abnormally small skull)
• Mutism(Inability to speak)
• Prominent nasal bridge(Elevated nasal bridge)
• Severe short stature(Dwarfism)
• Specific learning disability
• Underdeveloped nasal alae(Underdeveloped tissue around nostril)
• Wide nasal bridge(Broad nasal bridge)
• Wide nose(Broad nose)

30%-79% of people have these symptoms

• Aplastic/hypoplastic toenail(Absent/small toenails)
• Bilateral single transverse palmar creases
• Broad columella
• Broad forehead(Increased width of the forehead)
• Clinodactyly of the 5th toe
• Delayed skeletal maturation(Delayed bone maturation)
• Downslanted palpebral fissures(Downward slanting of the opening between the eyelids)
• Enlarged epiphyses(Large end part of bone)
• Frontal bossing
• Intrauterine growth retardation(Prenatal growth deficiency)
• Limb dystonia
• Limitation of joint mobility(Decreased joint mobility)
• Muscular hypotonia(Low or weak muscle tone)
• Optic atrophy
• Paraplegia(Leg paralysis)
• Prominent forehead(Pronounced forehead)
• Short philtrum
• Small nail(Small nails)
• Spasticity(Involuntary muscle stiffness, contraction, or spasm)

5%-29% of people have these symptoms

• Ambiguous genitalia(Ambiguous external genitalia)
• Finger syndactyly
• Hypertrichosis
• Hypodontia(Failure of development of between one and six teeth)
• Seizure
• Sparse hair
• Supernumerary nipple(Accessory nipple)
• Thin vermilion border(Decreased volume of lip)
• Ventricular septal defect(Hole in heart wall separating two lower heart chambers)

Diagnosis

Filippi syndrome is diagnosed based on the symptoms, clinical exam, imaging studies and may be confirmed by the results of genetic testing.

Treatment

• Treatment of Filippi syndrome is focused on managing the symptoms.
• Options may include surgery to correct fused fingers and physical and speech therapy.

Specialists involved in the care of someone with Filippi syndrome may include:

• Neurologist
• Orthopedics
• Dentist
• Hand surgeon
• Physical therapist
• Occupational therapist
• Speech therapist

NIH genetic and rare disease info

• NIH info on Filippi syndrome

Filippi syndrome is a rare disease.

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