What is Trichorhinophalangeal Syndrome?
Trichorhinophalangeal syndromes (I-II) are extremely rare conditions characterized by developmental problems craniofacial and skeletal abnormalities.
How does Trichorhinophalangeal Syndrome affect my child?
A wide variability of clinical features exists among persons with Trichorhinophalangeal syndrome and even among subjects of the same family. Type I is characterized by distinct facial features, developmental problems, finger abnormalities and sparse hair, while in type II bone abnormalities are present in addition to the features characteristic to type I.
|Scalp hair, sparse||Nose, bulbous|
|Ala Nasi, cleft/notched||Nose, pear-shaped|
|Philtrum, long||Ears, protruding|
|Cone-shaped epiphyses of phalanges||Short stature|
|Fingers, short||Short toes|
FDNA and Trichorhinophalangeal Syndrome
Children with this syndrome may remain under-diagnosed because its rarity, dysmorphic facial features are a common finding but are highly variable and therefore not easily recognizable, this syndrome shares distinct external features (phenotype) as exhibited more common syndromes and lack of relevant family history in several cases do not trigger suspicion in many cases.
Using FDNA’s service increases the chances of detecting these distinct characteristics, which, when shown to a geneticist can assist in reaching the right medical diagnosis.
What additional medical issues should be considered in association with Trichorhinophalangeal Syndrome?
Children with Trichorhinophalangeal also tend to suffer from one or more of the following problems:
How common is Trichorhinophalangeal Syndrome?
The incidence of Trichorhinophalangeal Syndrome is uncertain; more than 100 cases have been described in the literature.
What causes Trichorhinophalangeal Syndrome?
Trichorhinophalangeal Syndrome is inherited in autosomal dominant manner and is caused by mutations in the specific gene located at chromosome 8. This gene provides instructions for making a protein that regulates the activity of many other genes which play role in regulating growth of bone and cartilage. Type II is caused by a small missing piece of chromosome 8.
How is Trichorhinophalangeal Syndrome diagnosed?
The diagnosis of Trichorhinophalangeal Syndrome is based on clinical and radiological findings. Confirmation is done by genetic analysis which is very important in some cases with nonclassical clinical presentation.
How is Trichorhinophalangeal Syndrome treated?
While there is no cure for this syndrome, many complications associated with this syndrome can be treated, and a great deal can be done to support and compensate for functional disabilities. Due to the diversity of the symptoms, it may be necessary to see a number of different specialists and undergo various examinations, including the following: