Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD)

What is Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD)?

This rare disease is a genetic syndrome that affects mainly the limbs and face of those affected.

It also presents with hypotonia (low muscle tone) and developmental delay to various degrees.

Syndrome Synonyms:
Congenital contractures of the limbs and face, hypotonia, and developmental

What gene changes cause Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD)?

Changes or mutations in the NALCN gene are responsible for causing the syndrome, although research into the causes are still ongoing. All cases of the syndrome diagnosed so far are de novo or new mutations and not inherited.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

What are the main symptoms of Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD)?

The main symptoms of the syndrome include congenital contractures- these are musculoskeletal abnormalities that affect the limbs and movement.

Hypotonia and developmental delay are also symptoms of the syndrome.

Possible clinical traits/features:
Cerebral atrophy, Cerebellar atrophy, Wide nasal bridge, Adducted thumb, Micrognathia, Knee flexion contracture, Inguinal hernia, Muscular hypotonia, Long philtrum, Camptodactyly, Umbilical hernia, Short columella, Scoliosis, Congenital contracture, Elbow flexion contracture, Global developmental delay, Delayed speech and language development, Gastroesophageal reflux, Full cheeks, Hip contracture, Pursed lips, Short neck

How does someone get tested for Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD)?

The initial diagnosis of Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay can begin with facial genetic analysis screening, as offered by FDNA Telehealth, which can identify the key markers of the syndrome and outline the need for further testing. If further testing is recommended what will follow is a consultation with a genetic counselor and then a geneticist. These consultations will usually involve a comprehensive review of the patient’s medical history, a generational family history documenting health issues and genetic conditions, and a detailed physical examination. Based on this clinical consultation, the options and recommendations for genetic testing will be shared with the individual’s parents/guardians and consent will be sought for further testing. This process may take place over the course of several clinic visits. Genetic testing will involve a blood sample. Results from the testing will then be sent back to the geneticist who will explain the resulting report in detail with the parents/guardians of the individual being tested.

Medical information on Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD)

Five unrelated individuals reported by Chong et al., (2015) had congenital contractures (adducted thumbs, camptodactyly, contractures at hip, elbow and knee) facial dysmorphism (downslanting fissures, long philtrum, pursed lips, lage nares, anteverted nasal tip, short columella, deep nasolabial folds, small jaw, broad nasal bridge, dimpled chin) and intellectual disability. Three died early (one from hemophagocytosis). Heterozygous mutatios were found in the sodium leak channel.
The child reported by Aoyagi et al., (2015) had joint contractures and developmental delay, but also had episodes of ataxia, irritability and vomiting triggered by fatigue, strong emotions and quick movements. These lasted from 15-30 minutes - as in episodic ataxia these were abolished b acetazolamide. However the ataxia became constant.

* This information is courtesy of the L M D.
If you find a mistake or would like to contribute additional information, please email us at: [email protected]

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