Introduction

Filippi syndrome is a rare genetic disorder present at birth. The disorder is characterized by abnormal facial appearance, unusual appearance of the fingers and toes, and mild to severe mental retardation.¹

This syndrome is characterized by stunted growth pre and post-birth, low birth weight and short stature. This syndrome mainly possesses clinical as well as genetic characteristics.¹

Clinical characteristics

Ocular features

The most consistent features are long eyelashes, thick bushy eyebrows and visual disturbances. Individuals have also been reported to have abnormal facial features with bulging eyes. However, the ocular features are yet to be fully elucidated.²

Systemic features

Babies with Filippi syndrome experience growth retardation in the womb sometimes. Common features include a small head (microcephaly), short stature, webbed fingers or toes, stunted mental growth and peculiar facial features. Some may also experience underdeveloped mails, excessive hair growth and small teeth. Delays in mental and physical development are typical. Extra fingers or toes may also be present, and X-rays may show underdevelopment of the elbow.²

Genetics

Homozygosity or compound heterozygosity in the CKAP2L gene (2q13) segregates with this phenotype.²

General outlook

This syndrome can pass down from a biological parent to their child through genetic mutations which amplify the chances of getting this condition. It is important to know whether other family members have previously acquired this disease (also known as family history) and this forms very important information for the medical team.³

There are multiple ways or patterns, a disease can be inherited depending on the genes involved. Based on the current data, this disease can be inherited in the following pattern:

Autosomal recessive

Filippi syndrome is passed on through an autosomal recessive trait. Genetic diseases occur as a result of one gene received from each of the parents.³

It appears to affect males and females equally. Since the syndrome was originally described in 1985 (G. Filippi), approximately 18 cases have been reported in the medical literature, including affected siblings with certain families as well as isolated cases.¹

Filippi syndrome is sometimes classified as one of the “craniodigital syndromes”, several disorders loosely grouped because of similar abnormalities affecting the head, fingers and toes.¹

This syndrome is caused by genetic mutations, also known as pathogenic variants.³

Genetic mutations can be hereditary when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations occur as a result of contracting viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these.³

There are case reports related to Filippi syndrome. Some are mentioned as follows:

This is a case report of a boy who presented with webbed fingers, stunted mental growth, microcephaly, depressed nasal canal and growth retardation. In addition, he also had some dental abnormalities like missing bilateral lateral incisors and delayed eruption of teeth. It was concluded to be Filippi syndrome by studying pathognomic clinical features and the literature review. This is the second case report from India.⁴

Yet another case was reported of two brothers with a combination of atypical webbing of fingers, cerebellar atrophy and severe mental retardation. These case reports share common features with the group of craniodigital syndrome and could also indicate possibilities of new occurrences of Filippi syndrome.⁵

Summary

Filippi syndrome is a rare disorder which can be genetic and hereditary. This disorder is present at birth. A child with this condition can be identified through its clinical characteristics. This is characterized by abnormal facial appearance, unusual appearance of the fingers and toes, and mild to severe mental retardation.

The mechanism through which this is transmitted is through autosomal recessive traits. Genetic mutations can also be the causative agent. A couple of case reports have also been reported depicting the growth and development of children with this disorder.