Format

Send to:

Choose Destination

Links from PubMed

Septo-optic dysplasia sequence(SOD)

MedGen UID:
90926
Concept ID:
C0338503
Congenital Abnormality
Synonyms: De morsier syndrome; HESX1-Related Combined Pituitary Hormone Deficiency; Hypopituitarism and septooptic 'dysplasia'; Septo-optic dysplasia; Septo-optic dysplasia with growth hormone deficiency; Septooptic Dysplasia; SOD
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Multifactorial inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Sources: HPO, Orphanet
A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.
Autosomal dominant inheritance
MedGen UID:
892334
Concept ID:
CN000007
Functional Concept
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
not inherited (Orphanet)
SNOMED CT: Septo-optic dysplasia sequence (7611002); Septo optic dysplasia (7611002)
 
Gene (location): HESX1 (3p14.3)
OMIM®: 182230
HPO: HP:0100842
Orphanet: ORPHA3157

Definition

Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010). Also see 516020.0012 for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance. [from OMIM]

Additional description

From GHR
Septo-optic dysplasia is a disorder of early brain development. Although its signs and symptoms vary, this condition is traditionally defined by three characteristic features: underdevelopment (hypoplasia) of the optic nerves, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia.The first major feature, optic nerve hypoplasia, is the underdevelopment of the optic nerves, which carry visual information from the eyes to the brain. In affected individuals, the optic nerves are abnormally small and make fewer connections than usual between the eyes and the brain. As a result, people with optic nerve hypoplasia have impaired vision in one or both eyes. Optic nerve hypoplasia can also be associated with unusual side-to-side eye movements (nystagmus) and other eye abnormalities.The second characteristic feature of septo-optic dysplasia is the abnormal development of structures separating the right and left halves of the brain. These structures include the corpus callosum, which is a band of tissue that connects the two halves of the brain, and the septum pellucidum, which separates the fluid-filled spaces called ventricles in the brain. In the early stages of brain development, these structures may form abnormally or fail to develop at all. Depending on which structures are affected, abnormal brain development can lead to intellectual disability and other neurological problems.The third major feature of this disorder is pituitary hypoplasia. The pituitary is a gland at the base of the brain that produces several hormones. These hormones help control growth, reproduction, and other critical body functions. Underdevelopment of the pituitary can lead to a shortage (deficiency) of many essential hormones. Most commonly, pituitary hypoplasia causes growth hormone deficiency, which results in slow growth and unusually short stature. Severe cases cause panhypopituitarism, a condition in which the pituitary produces no hormones. Panhypopituitarism is associated with slow growth, low blood sugar (hypoglycemia), genital abnormalities, and problems with sexual development.The signs and symptoms of septo-optic dysplasia can vary significantly. Some researchers suggest that septo-optic dysplasia should actually be considered a group of related conditions rather than a single disorder. About one-third of people diagnosed with septo-optic dysplasia have all three major features; most affected individuals have two of the major features. In rare cases, septo-optic dysplasia is associated with additional signs and symptoms, including recurrent seizures (epilepsy), delayed development, and abnormal movements.  https://ghr.nlm.nih.gov/condition/septo-optic-dysplasia

Clinical features

Diabetes mellitus, gestational
MedGen UID:
38815
Concept ID:
C0085207
Finding
Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. When you are pregnant, high blood sugar levels are not good for your baby. About seven out of every 100 pregnant women in the United States get gestational diabetes. Gestational diabetes is diabetes that happens for the first time when a woman is pregnant. Most of the time, it goes away after you have your baby. But it does increase your risk for developing type 2 diabetes later on. Your child is also at risk for obesity and type 2 diabetes. Most women get a test to check for diabetes during their second trimester of pregnancy. Women at higher risk may get a test earlier. If you already have diabetes, the best time to control your blood sugar is before you get pregnant. High blood sugar levels can be harmful to your baby during the first weeks of pregnancy - even before you know you are pregnant. To keep you and your baby healthy, it is important to keep your blood sugar as close to normal as possible before and during pregnancy. Either type of diabetes during pregnancy increases the chances of problems for you and your baby. To help lower the chances talk to your health care team about. -A meal plan for your pregnancy. -A safe exercise plan. -How often to test your blood sugar. -Taking your medicine as prescribed. Your medicine plan may need to change during pregnancy. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Diabetes insipidus
MedGen UID:
504639
Concept ID:
CN000819
Finding
A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Septo-optic dysplasia sequence
MedGen UID:
90926
Concept ID:
C0338503
Congenital Abnormality
Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010). Also see 516020.0012 for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.
Optic disc hypoplasia
MedGen UID:
224879
Concept ID:
C1298695
Finding
Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Limitation in visual functions.
Optic nerve hypoplasia
MedGen UID:
504521
Concept ID:
CN000571
Finding
Underdevelopment of the optic nerve.
Optic atrophy
MedGen UID:
504537
Concept ID:
CN000609
Finding
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Micropenis
MedGen UID:
78603
Concept ID:
C0266435
Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Abnormal renal physiology
MedGen UID:
489768
Concept ID:
CN168062
Finding
An abnormal functionality of the kidney.
Polydactyly
MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
A congenital anomaly characterized by the presence of supernumerary fingers or toes.
Short finger
MedGen UID:
334977
Concept ID:
C1844548
Anatomical Abnormality
Abnormally short finger associated with developmental hypoplasia.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Obesity
MedGen UID:
368429
Concept ID:
C1963185
Finding
Constipation
MedGen UID:
368096
Concept ID:
C1963087
Finding
Tracheoesophageal fistula
MedGen UID:
505275
Concept ID:
CN002337
Finding
An abnormal connection (fistula) between the esophagus and the trachea.
Sensorineural hearing loss
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.
Seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
Seizures are symptoms of a brain problem. They happen because of sudden, abnormal electrical activity in the brain. When people think of seizures, they often think of convulsions in which a person's body shakes rapidly and uncontrollably. Not all seizures cause convulsions. There are many types of seizures and some have mild symptoms. Seizures fall into two main groups. Focal seizures, also called partial seizures, happen in just one part of the brain. Generalized seizures are a result of abnormal activity on both sides of the brain. . Most seizures last from 30 seconds to 2 minutes and do not cause lasting harm. However, it is a medical emergency if seizures last longer than 5 minutes or if a person has many seizures and does not wake up between them. Seizures can have many causes, including medicines, high fevers, head injuries and certain diseases. People who have recurring seizures due to a brain disorder have epilepsy. . NIH: National Institute of Neurological Disorders and Stroke.
Corpus callosum agenesis
MedGen UID:
104498
Concept ID:
C0175754
Congenital Abnormality
The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.
Septo-optic dysplasia sequence
MedGen UID:
90926
Concept ID:
C0338503
Congenital Abnormality
Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010). Also see 516020.0012 for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.
Hemiplegia/hemiparesis
MedGen UID:
852561
Concept ID:
C0375206
Finding
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.
Anterior pituitary hypoplasia
MedGen UID:
347950
Concept ID:
C1859775
Finding
Underdevelopment of the anterior pituitary gland.
Aplasia/Hypoplasia of the corpus callosum
MedGen UID:
354608
Concept ID:
C1861866
Finding
Absence or underdevelopment of the corpus callosum.
Cognitive delay
MedGen UID:
351243
Concept ID:
C1864897
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Aplasia/Hypoplasia of the cerebellum
MedGen UID:
480852
Concept ID:
C3279222
Finding
Abnormality of the sense of smell
MedGen UID:
867293
Concept ID:
C4021655
Anatomical Abnormality
An anomaly in the ability to perceive and distinguish scents (odors).
Optic nerve hypoplasia
MedGen UID:
504521
Concept ID:
CN000571
Finding
Underdevelopment of the optic nerve.
Autism
MedGen UID:
504569
Concept ID:
CN000674
Finding
Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
Growth hormone deficiency
MedGen UID:
428231
Concept ID:
CN000771
Finding
Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism.
Anterior hypopituitarism
MedGen UID:
504614
Concept ID:
CN000776
Finding
A condition of reduced function of the pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.
Absent septum pellucidum
MedGen UID:
504803
Concept ID:
CN001219
Finding
Absence of the septum pellucidum.
Cognitive impairment
MedGen UID:
451875
Concept ID:
CN117436
Finding
Abnormality in the process of thought including the ability to process information.
Tracheoesophageal fistula
MedGen UID:
505275
Concept ID:
CN002337
Finding
An abnormal connection (fistula) between the esophagus and the trachea.
Constipation
MedGen UID:
368096
Concept ID:
C1963087
Finding
Tracheoesophageal fistula
MedGen UID:
505275
Concept ID:
CN002337
Finding
An abnormal connection (fistula) between the esophagus and the trachea.
Diabetes mellitus, gestational
MedGen UID:
38815
Concept ID:
C0085207
Finding
Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. When you are pregnant, high blood sugar levels are not good for your baby. About seven out of every 100 pregnant women in the United States get gestational diabetes. Gestational diabetes is diabetes that happens for the first time when a woman is pregnant. Most of the time, it goes away after you have your baby. But it does increase your risk for developing type 2 diabetes later on. Your child is also at risk for obesity and type 2 diabetes. Most women get a test to check for diabetes during their second trimester of pregnancy. Women at higher risk may get a test earlier. If you already have diabetes, the best time to control your blood sugar is before you get pregnant. High blood sugar levels can be harmful to your baby during the first weeks of pregnancy - even before you know you are pregnant. To keep you and your baby healthy, it is important to keep your blood sugar as close to normal as possible before and during pregnancy. Either type of diabetes during pregnancy increases the chances of problems for you and your baby. To help lower the chances talk to your health care team about. -A meal plan for your pregnancy. -A safe exercise plan. -How often to test your blood sugar. -Taking your medicine as prescribed. Your medicine plan may need to change during pregnancy. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Polydactyly
MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
A congenital anomaly characterized by the presence of supernumerary fingers or toes.
Short finger
MedGen UID:
334977
Concept ID:
C1844548
Anatomical Abnormality
Abnormally short finger associated with developmental hypoplasia.
Cleft palate
MedGen UID:
3107
Concept ID:
C0008925
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Abnormality of the sense of smell
MedGen UID:
867293
Concept ID:
C4021655
Anatomical Abnormality
An anomaly in the ability to perceive and distinguish scents (odors).
Dry skin
MedGen UID:
56250
Concept ID:
C0151908
Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
Hypohidrosis
MedGen UID:
108211
Concept ID:
C0553721
Finding
Diabetes mellitus, gestational
MedGen UID:
38815
Concept ID:
C0085207
Finding
Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. When you are pregnant, high blood sugar levels are not good for your baby. About seven out of every 100 pregnant women in the United States get gestational diabetes. Gestational diabetes is diabetes that happens for the first time when a woman is pregnant. Most of the time, it goes away after you have your baby. But it does increase your risk for developing type 2 diabetes later on. Your child is also at risk for obesity and type 2 diabetes. Most women get a test to check for diabetes during their second trimester of pregnancy. Women at higher risk may get a test earlier. If you already have diabetes, the best time to control your blood sugar is before you get pregnant. High blood sugar levels can be harmful to your baby during the first weeks of pregnancy - even before you know you are pregnant. To keep you and your baby healthy, it is important to keep your blood sugar as close to normal as possible before and during pregnancy. Either type of diabetes during pregnancy increases the chances of problems for you and your baby. To help lower the chances talk to your health care team about. -A meal plan for your pregnancy. -A safe exercise plan. -How often to test your blood sugar. -Taking your medicine as prescribed. Your medicine plan may need to change during pregnancy. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Diabetes mellitus, gestational
MedGen UID:
38815
Concept ID:
C0085207
Finding
Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. When you are pregnant, high blood sugar levels are not good for your baby. About seven out of every 100 pregnant women in the United States get gestational diabetes. Gestational diabetes is diabetes that happens for the first time when a woman is pregnant. Most of the time, it goes away after you have your baby. But it does increase your risk for developing type 2 diabetes later on. Your child is also at risk for obesity and type 2 diabetes. Most women get a test to check for diabetes during their second trimester of pregnancy. Women at higher risk may get a test earlier. If you already have diabetes, the best time to control your blood sugar is before you get pregnant. High blood sugar levels can be harmful to your baby during the first weeks of pregnancy - even before you know you are pregnant. To keep you and your baby healthy, it is important to keep your blood sugar as close to normal as possible before and during pregnancy. Either type of diabetes during pregnancy increases the chances of problems for you and your baby. To help lower the chances talk to your health care team about. -A meal plan for your pregnancy. -A safe exercise plan. -How often to test your blood sugar. -Taking your medicine as prescribed. Your medicine plan may need to change during pregnancy. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Anterior pituitary hypoplasia
MedGen UID:
347950
Concept ID:
C1859775
Finding
Underdevelopment of the anterior pituitary gland.
Growth hormone deficiency
MedGen UID:
428231
Concept ID:
CN000771
Finding
Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism.
Anterior hypopituitarism
MedGen UID:
504614
Concept ID:
CN000776
Finding
A condition of reduced function of the pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSepto-optic dysplasia sequence
Follow this link to review classifications for Septo-optic dysplasia sequence in Orphanet.

Conditions with this feature

Septo-optic dysplasia sequence
MedGen UID:
90926
Concept ID:
C0338503
Congenital Abnormality
Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010). Also see 516020.0012 for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.
Craniotelencephalic dysplasia
MedGen UID:
347462
Concept ID:
C1857471
Disease or Syndrome
Tetraamelia, autosomal recessive
MedGen UID:
411798
Concept ID:
C2749279
Disease or Syndrome
Tetra-amelia syndrome is characterized by the (complete) absence of all four limbs and anomalies involving the cranium and the face (cleft lip/cleft palate, micrognathia, microtia, single naris, choanal atresia, absence of nose); eyes (microphthalmia, microcornea, cataract, coloboma, palpebral fusion); urogenital system (renal agenesis, persistence of cloaca, absence of external genitalia, atresia of vagina); anus (atresia); heart; lungs (hypoplasia/aplasia), skeleton (hypoplasia/absence of pelvic bones, absence of ribs, absence of vertebrae), and central nervous system (agenesis of olfactory nerves, agenesis of optic nerves, agenesis of corpus callosum, hydrocephalus). Affected infants are often stillborn or die shortly after birth.

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...