What are the other Names for this Condition? (Also known as/Synonyms)

• Facial Dysmorphism-Ambiguous Genitalia-Hypopituitarism-Short Limbs Syndrome

What is Dincsoy-Salih-Patel Syndrome? (Definition/Background Information)

• Dinscoy-Salih-Patel Syndrome, which is part of the septo-optic dysplasia (SOD) spectrum, is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities, and midline brain defects
• Treatment is symptomatic and patients should be managed by a multidisciplinary team with regular follow-up
• Prognosis is variable, depending on the severity of the disease

(Source: Septo-Optic Dysplasia Spectrum; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Dincsoy-Salih-Patel Syndrome? (Age and Sex Distribution)

• Dinscoy-Salih-Patel Syndrome is a rare congenital disorder with an incidence of 1 in every 10,000 births
• The presentation of symptoms may occur soon after birth or in infancy
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Dincsoy-Salih-Patel Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor since Dinscoy-Salih-Patel Syndrome can be inherited
• Children of parents who are close blood relatives (such as siblings or first cousins) may be a risk factor for the syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causesof Dincsoy-Salih-Patel Syndrome? (Etiology)

Dinscoy-Salih-Patel Syndrome, which is part of septo-optic dysplasia spectrum, may develop sporadically.

• Both homozygous (autosomal recessive transmission) and heterozygous (autosomal dominant transmission)HESX1mutations (3p21.2-p21.1) have been described in familial cases 
• Three additional genes have been implicated in associated phenotypes that may be considered as part of the SOD spectrum:
• SOX2mutations (3q26.3-q27) associated with anophthalmia/microphthalmia and features of SOD 
• Mutations/duplications in theSOX3gene (Xq26.3) associated with midline brain anomalies and hypopituitarism (although no eye defects have yet been described) 
• OTX2mutations (14q21-q22) associated with hypopituitarism and anterior pituitary hypoplasia, with or without eye defects
• Mutations in these genes are detected in less than 1% of patients and environmental factors (drug and alcohol abuse, young maternal age) may also be involved

(Source: Septo-Optic Dysplasia Spectrum;Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correct function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Dincsoy-Salih-Patel Syndrome?

The signs and symptoms of Dinscoy-Salih-Patel Syndrome vary in type, severity, and age of onset among affected individuals. The following are the signs and symptoms of Dinscoy-Salih-Patel Syndrome:

• Growth failure
• Visual anomalies
• Strabismus 
• Nystagmus
• Unilateral optic nerve hypoplasia (57% of cases)
• Bilateral optic nerve hypoplasia (32% of cases)
• Significant visual impairment (23% of affected individuals)
• Hypopituitarism (62-80% of patients), leading to deficiencies in
• Growth hormone (leading to short stature in childhood) is the most frequent 
• Thyroid-stimulating hormone 
• Adrenocorticotropic hormone 
• Gonadotropin-releasing hormone 
• Midline brain defects include agenesis of the septum pellucidum (60% of cases) and/or corpus callosum 
• Associated cortical malformations (sometimes referred to as SOD-plus syndrome) 
• Intellectual deficit 
• Neurological manifestations 
• Developmental delay
• Seizures 
• Cerebral palsy
• Diabetes insipidus
• Sleep disorders
• Autism
• Precocious puberty
• Obesity
• Thermoregulatory disturbances
• Anosmia
• Sensorineural hearing loss 
• Cardiac anomalies 
• Digital anomalies

(Source: Septo-Optic Dysplasia Spectrum; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

How is Dincsoy-Salih-Patel Syndrome Diagnosed?

• Clinical diagnosis of Dinscoy-Salih-Patel Syndrome, as part of septo-optic dysplasia, requires the presence of at least two of the features of the classical triad and can be confirmed by:
• Ophthalmological studies
• MRI
• Dynamic pituitary function tests 
• Septo-optic dysplasia should be suspected in newborns with hypoglycemia, jaundice, microphallus (with or without undescended testes) and nystagmus with or without associated midline abnormalities (such as cleft palate)

(Source: Septo-Optic Dysplasia Spectrum; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Dincsoy-Salih-Patel Syndrome?

The complications of Dinscoy-Salih-Patel Syndrome may include:

• Visual impairment
• Intellectual deficiency
• Seizures leading to the following:
• Trauma/injury: Seizures can lead to fall injuries affecting the head, or cause bone fractures
• Status epilepticus is a seizure that lasts longer than normal. A time duration of 30-60 minutes is generally considered a minimum requirement for usage of the term Status Epilepticus, to describe the condition. It is considered a serious life-threatening condition and is a medical emergency
• Psychological issues; especially depression, anxiety, and in some cases suicidal tendencies are noted
• Complications during pregnancy: There is a potential for reduction in fertility. Certain anti-epileptic medications increase the risk of birth defects
• Sudden unexplained deaths with epilepsy: This phenomenon is not well understood, but could be related to disturbances in the heart's rhythm or due to breathing problems
• Low self-esteem, depression

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Dincsoy-Salih-Patel Syndrome Treated?

• Treatment for Dinscoy-Salih-Patel Syndrome is symptomatic, and patients should be managed by a multidisciplinary team with regular follow-up 
• Hormone insufficiencies can be treated with hormone replacement therapy but close monitoring is required as the hormone deficiencies evolve with age
• Children may benefit from developmental programs for the visually impaired, as well as from physical, and occupational therapies

(Source: Septo-Optic Dysplasia Spectrum; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

How can Dincsoy-Salih-Patel Syndrome be Prevented?

Presently, Dinscoy-Salih-Patel Syndrome may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Dincsoy-Salih-Patel Syndrome? (Outcomes/Resolutions)

• The prognosis of Dinscoy-Salih-Patel Syndrome is variable, depending on the severity of the disease
• Early diagnosis is associated with a better outcome as it allows timely management of hormone insufficiencies

(Source: Septo-Optic Dysplasia Spectrum; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Additional and Relevant Useful Information for Dincsoy-Salih-Patel Syndrome:

Septo-Optic Dysplasia was first described by scientists Dincsoy, Salih, Patel and other fellow-scientists in 1995, and was initially known as Dincsoy-Salih-Patel Syndrome. With subsequent cases being described, Dincsoy-Salih-Patel syndrome is covered under the broad term “septo-optic dysplasia spectrum”.

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/