developmental delay with short stature, dysmorphic facial features, and sparse hair 1

Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 is a congenital condition that primarily affects neurodevelopment and physical growth. It is caused by pathogenic variants in the DPH1 gene and is classified as an autosomal recessive disorder. Affected individuals typically present in early childhood with global developmental delays and distinctive facial features, including a prominent forehead and features such as low-set ears and hypertelorism. This condition is very rare and is estimated to affect fewer than 1 in 1,000,000 people.

The clinical presentation of this condition is marked by a consistent constellation of physical and developmental features. Characteristic findings include sparse scalp hair, sparse eyelashes and eyebrows, low-set ears, micrognathia, prominent forehead, hypertelorism, scaphocephaly, epicanthus, and downslanted palpebral fissures. In addition, all affected individuals experience intellectual disability and global developmental delay, reflecting the involvement of the central nervous system. Not all individuals experience every feature, and severity varies considerably from one person to another.

This condition results from mutations in the DPH1 gene, which plays a crucial role in cellular processes. It is inherited in an autosomal recessive pattern, meaning that an affected individual inherits two copies of the mutated gene, one from each parent. Because this disorder is very rare, it can be more commonly observed in families where the parents share a common ancestor. Genetic counseling is recommended to help families understand the implications of this inheritance pattern and to discuss testing options for relatives.

Currently, management focuses on supportive care and symptom management, with treatment tailored to the needs of each individual. Although no specific or FDA-approved treatments exist for this condition, a multidisciplinary team—including specialists in developmental pediatrics, neurology, and genetics—is essential to address the range of developmental and physical challenges. Regular surveillance and monitoring of developmental progress and potential complications are important, and families are encouraged to seek genetic counseling to understand all care options and recurrence risks. Patients should discuss treatment options with their healthcare team to determine the most appropriate interventions for their situation.

The outlook for individuals with this condition is variable, with outcomes that depend on the severity of symptoms, age at diagnosis, and access to supportive and multidisciplinary care. With current standards of care, many individuals benefit from early intervention and ongoing management that supports developmental progress and quality of life. Outcomes described in medical literature continue to evolve as standards of care improve, so families are advised that the clinical course may include periods of stabilization as well as emerging challenges over time. Genetic counseling and connection with expert centers can provide additional guidance and support as families navigate the long-term outlook.