Tetrasomy 9p
Synonyms: Isochromosome 9p
Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation psychomotor delay mild to moderate intellectual disability hypotonia microcephaly dysmorphic features (ocular hypertelorism low-set malformed ears bulbous/beaked nose microretrognathia enophthalmos/micropthalmia epicanthus strabismus) cleft lip/palate skeletal abnormalities (hypoplastic nails/distal phalanges short stature short neck contractures) congenital heart defects renal and urogenital malformations (renal hypoplasia genital hypoplasia cryptorchidism).
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 April 2024
Newly diagnosed with
Tetrasomy 9p?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.