Distal monosomy 7q36

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: Distal deletion 7q36 | Monosomy 7qter | Telomeric deletion 7q36

Distal monosomy 7q36 is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 7 with a highly variable phenotype typically characterized by holoprosencephaly growth restriction developmental delay facial dysmorphism (facial clefts prominent forehead hypertelorism low-set ears flat and broad nasal bridge large mouth) abnormal fingers and palm or sole creases ocular abnormalities and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

Newly diagnosed with
Distal monosomy 7q36?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

For a list of clinical trials in this disease area, please click here.