Teebi hypertelorism syndrome 1

Teebi hypertelorism syndrome 1 is a rare genetic condition that mainly affects the facial features. People with this condition often have widely spaced eyes (hypertelorism) and other distinctive facial characteristics that may resemble craniofrontonasal dysplasia. Features such as a prominent forehead, a widow’s peak, heavy and broad eyebrows, long eye openings, droopy eyelids (ptosis), and a broad nasal bridge are described. The facial appearance can also include a short nose, low-set ears, birth teeth (natal teeth), a thin upper lip, and a grooved chin. In addition to the facial features, other parts of the body may show differences. Some individuals have limb anomalies like a bent little finger (fifth-finger clinodactyly), inward turning of the foot (pes adductus), and mild webbing between fingers. There have also been reports of urogenital anomalies, such as undescended testes in males and a condition known as shawl scrotum, along with umbilical issues like hernias or a small omphalocele. Heart defects including openings in the heart walls have been noted, while other reports mention kidney cysts and eye anomalies. Overall, while many aspects of health can be affected by Teebi hypertelorism syndrome 1, early development in other areas, including psychomotor skills, generally shows a normal pattern.

People with this condition commonly show distinctive facial features. These include hypertelorism, a prominent forehead, a widow’s peak, heavy and broad eyebrows, long palpebral fissures, drooping eyelids, and a high and broad nasal bridge. Other described signs are a short nose, low-set ears, the presence of natal teeth, a thin upper lip, and a grooved chin. In addition, limb abnormalities such as a bent little finger, inward turning of the foot, and slight webbing between digits are noted. Urogenital differences, umbilical anomalies like hernias, and certain heart problems have also been reported.

Teebi hypertelorism syndrome 1 is caused by genetic changes. The condition is linked to mutations in the SPECC1L gene. This gene plays a role in the development of facial features and other structures. Because it is inherited, family history may also be relevant, although the specific inheritance pattern or risk factors are not fully detailed in the provided information.

Information about treatment is currently limited for this condition.

While detailed information on long-term outlook is limited, it is noted that psychomotor development is typically normal. This suggests that many individuals have a typical developmental progress alongside their physical differences. Other aspects of the overall health and quality of life might vary and need further detailed study.

Information about research is currently limited for this condition.