{"Name":"Stromme syndrome","DiseaseID__c":"GARD:0017945","id":17945,"encodedName":"stromme-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Stromme syndrome","Xref_IDs__c":"1187120008; C1855705; C565460; DOID:0110595; MEDGEN:340938; MONDO:0009477; OMIM:243605","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":8,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0009477","Disease_Description__c":"An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).","GARD_Name__c":"Stromme syndrome","GARD_Synonym__c":"apple peel intestinal atresia, ocular anomalies, microcephaly syndrome; apple peel syndrome with microcephaly and ocular anomalies; apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome; ciliary dyskinesia, primary, 31; ciliary dyskinesia, primary, type 31; jejunal atresia with microcephaly and ocular anomalies; jejunal atresia-microcephaly-ocular anomalies syndrome; jejunal atresia, microcephaly, ocular anomalies syndrome; lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome; lethal foetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome; stroms","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Stromme syndrome is a rare genetic condition present at birth. It is usually characterized by having a smaller than usual head and smaller than usual eyeballs. People with this condition often have an atypical small intestine that ends in a blockage. Some people with this syndrome may have unusual facial features. These include a narrow or sloped forehead, wide-set eyes, sunken or swollen eyes. The openings between the eyelids may be smaller than usual. Features may include large or low set ears. People with Stromme syndrome may also have a wider nose base and broader nose tip than usual. Features also include a larger than usual space between the nose and upper lip, a small jaw, a thin upper lip, a large mouth, and/or a skin tag on the cheek. Delays in movement and coordination and intellectual disability have also been reported in some people with Stromme syndrome. In some cases, people may experience issues with the heart, brain, and kidneys. Additionally, people with Stromme syndrome may experience swelling in the legs and low levels of platelets in the blood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:506307","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009477","ORPHANET_ID__c":"ORPHA:444069; ORPHA:506307","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Stromme syndrome is a rare genetic condition present at birth. It is usually characterized by having a smaller than usual head and smaller than usual eyeballs. People with this condition often have an atypical small intestine that ends in a blockage. Some people with this syndrome may have unusual facial features. These include a narrow or sloped forehead, wide-set eyes, sunken or swollen eyes. The openings between the eyelids may be smaller than usual. Features may include large or low set ears. People with Stromme syndrome may also have a wider nose base and broader nose tip than usual. Features also include a larger than usual space between the nose and upper lip, a small jaw, a thin upper lip, a large mouth, and/or a skin tag on the cheek. Delays in movement and coordination and intellectual disability have also been reported in some people with Stromme syndrome. In some cases, people may experience issues with the heart, brain, and kidneys. Additionally, people with Stromme syndrome may experience swelling in the legs and low levels of platelets in the blood.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"apple peel intestinal atresia, ocular anomalies, microcephaly syndrome; apple peel syndrome with microcephaly and ocular anomalies; apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome; ciliary dyskinesia, primary, 31; ciliary dyskinesia, primary, type 31; jejunal atresia with microcephaly and ocular anomalies; jejunal atresia-microcephaly-ocular anomalies syndrome; jejunal atresia, microcephaly, ocular anomalies syndrome; lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome; lethal foetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome; stroms","Name":"Stromme syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK586170","Source__c":"Gene Review","Xref__c":"NBK586170"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1855705","Source__c":"C1855705","Xref__c":"C1855705"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110595","Source__c":"MONDO:0009477","Xref__c":"DOID:0110595"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565460","Source__c":"MONDO:0009477","Xref__c":"C565460"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=340938","Source__c":"C1855705","Xref__c":"MEDGEN:340938"},{"URL__c":"https://www.omim.org/entry/243605","Source__c":"C1855705; MONDO:0009477","Xref__c":"OMIM:243605"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009477","Source__c":"GARD:0017945","Xref__c":"MONDO:0009477"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1187120008","Source__c":"C1855705","Xref__c":"1187120008"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CENPF","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"Underdevelopment of the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000609","HPO_Synonym__c":"Hypoplastic optic nerves; Underdeveloped optic nerves","HPO_Name__c":"Optic nerve hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"An eye that is more deeply recessed into the plane of the face than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000490","HPO_Synonym__c":"Deep set eye; Deep-set eyes; Deeply set eye; Enophthalmos; Ocular depression; Sunken eye; Sunken eyes","HPO_Name__c":"Deeply set eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"A coloboma of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000612","HPO_Synonym__c":"Cat eye; Coloboma of iris; Coloboma of the iris; Keyhole iris","HPO_Name__c":"Iris coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000482","HPO_Synonym__c":"Cornea of eye less than 10mm in diameter; Decreased corneal diameter","HPO_Name__c":"Microcornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000647","HPO_Synonym__c":"Hardening of skin and connective tissue","HPO_Name__c":"Sclerocornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100258","HPO_Synonym__c":"Polydactyly, preaxial","HPO_Name__c":"Preaxial polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000659","HPO_Name__c":"Peters anomaly","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000369","HPO_Synonym__c":"Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia","HPO_Name__c":"Low-set ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005235","HPO_Name__c":"Jejunal atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"Underdevelopment of the vermis of cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001320","HPO_Synonym__c":"Cerebellar vermal hypoplasia; Hypoplasia of the cerebellar vermis; Hypoplastic cerebellar vermis","HPO_Name__c":"Cerebellar vermis hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"Increased breadth of the nasal bridge (and with it, the nasal root).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000431","HPO_Synonym__c":"Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge","HPO_Name__c":"Wide nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"Severe distention of the kidney with dilation of the renal pelvis and calices.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000126","HPO_Name__c":"Hydronephrosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000154","HPO_Synonym__c":"Broad mouth; Large mouth; Large oral aperture; Macrostomia; Wide mouth","HPO_Name__c":"Wide mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002566","HPO_Synonym__c":"Malrotation","HPO_Name__c":"Intestinal malrotation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by abnormal smallness of one or both eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000568","HPO_Synonym__c":"Abnormally small eyeball; Abnormally small globe of eye; Microphthalmos","HPO_Name__c":"Microphthalmia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"Two sided hypoplasia of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012584","HPO_Name__c":"Bilateral renal hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"An increased number of twists and turns of the retinal blood vessels. This can affect either arteries, veins or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012841","HPO_Synonym__c":"Tortuous retinal vessels","HPO_Name__c":"Retinal vascular tortuosity","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"Reduced distance from the anterior border of the naris to the subnasale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002000","HPO_Synonym__c":"Columella, short; Decreased length of columella","HPO_Name__c":"Short columella","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"Anterior positioning of the nasal root in comparison to the usual positioning for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000426","HPO_Synonym__c":"Elevated nasal bridge; High nasal bridge; Prominent bridge of nose; Prominent nasal bridge; Prominent nasal root; Protruding bridge of nose; Protruding nasal bridge","HPO_Name__c":"Prominent nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002247","HPO_Synonym__c":"Absence or narrowing of first part of small bowel","HPO_Name__c":"Duodenal atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001274","HPO_Synonym__c":"Absence of corpus callosum; Absent corpus callosum; Agenesis of the corpus callosum; Callosal agenesis; Corpus callosum agenesis; Dysplastic or absent corpus callosum","HPO_Name__c":"Agenesis of corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"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).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001747","HPO_Name__c":"Accessory spleen","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243605","Feature__r":{"HPO_Description__c":"Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001321","HPO_Synonym__c":"Congenital cerebellar hypoplasia; Hypoplasia of cerebellum; Hypoplastic cerebellum; Small cerebellum; Underdeveloped cerebellum","HPO_Name__c":"Cerebellar hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Nephrology","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Nephrology","Gastroenterology","Retinal","Anterior segment of Eye","Neurodevelopmental disabilities"],"Account":["Nephrology","Retinal"]},"synonyms":["apple peel intestinal atresia, ocular anomalies, microcephaly syndrome"," apple peel syndrome with microcephaly and ocular anomalies"," apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome"," ciliary dyskinesia, primary, 31"," ciliary dyskinesia, primary, type 31"," jejunal atresia with microcephaly and ocular anomalies"," jejunal atresia-microcephaly-ocular anomalies syndrome"," jejunal atresia, microcephaly, ocular anomalies syndrome"," lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome"," lethal foetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome"," stroms"]}