{"Name":"Trigonocephaly-short stature-developmental delay syndrome","DiseaseID__c":"GARD:0000243","id":243,"encodedName":"trigonocephaly-short-stature-developmental-delay-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Trigonocephaly-short stature-developmental delay syndrome","Xref_IDs__c":"733066002; C1839125; C536620; MEDGEN:374138; MONDO:0010749; OMIM:314320; ORPHA:3369","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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:0010749","Disease_Description__c":"A rare developmental defect during embryogenesis characterized by premature closure of metopic sutures and/or other sutures, short stature, and developmental delay. Dysmorphic features include trigonocephaly, metopic ridge, narrow forehead, bitemporal narrowing, arched eyebrows, hypotelorism, deep-set eyes, epicanthal folds, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (e.g. brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures.","GARD_Name__c":"Trigonocephaly-short stature-developmental delay syndrome","GARD_Synonym__c":"say meyer syndrome; say-meyer syndrome; trigonocephaly with short stature and developmental delay; trigonocephaly, short stature and developmental delay; trigonocephaly, short stature, and retarded psychomotor development; trigonocephaly, short stature, developmental delay syndrome","Curated_Disease_Description_Source__c":"MONDO:0010749","Curated_Disease_Description__c":"A rare syndromic craniosynostosis characterized by trigonocephaly prominent metopic ridge, short stature, and developmental delay. Dysmorphic features may also include narrow forehead with bitemporal narrowing, arched eyebrows, deep-set eyes, epicanthal folds, hypotelorism, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (including brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures. There have been no further descriptions in the literature since 1981.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:3369","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010749","ORPHANET_ID__c":"ORPHA:3369","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de trigonocefalia-talla baja-retraso de crecimiento","Spanish_Description_Source__c":"ORPHA:3369","Spanish_Description__c":"Es un defecto del desarrollo embrionario poco frecuente caracterizado por el cierre prematuro de la sutura metópica y/u otras suturas, talla baja y retraso psicomotor. Los rasgos dismórficos incluyen trigonocefalia, cresta metópica, frente estrecha, estrechamiento bitemporal, cejas arqueadas, hipotelorismo, ojos hundidos, pliegues epicánticos, estrabismo, puente nasal ancho, nariz pequeña y puntiaguda, narinas antevertidas, filtrum largo, orejas de implantación baja, aplanamiento malar, boca estrecha, labios finos, paladar ojival, dientes apiñados y micrognatia. Otras manifestaciones adicionales variables pueden incluir pérdida auditiva conductiva, anomalías cerebrales (afectando principalmente a la sustancia blanca), esqueléticas (p. ej., braquimesofalangia del quinto dedo de la mano), cardiovasculares y renales, hernia inguinal, hipospadias y crisis epilépticas.","Spanish_Disease_Name__c":"síndrome de trigonocefalia-talla baja-retraso de crecimiento","Spanish_GARD_Synonym__c":"síndrome de say-meyer","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":"A rare syndromic craniosynostosis characterized by trigonocephaly prominent metopic ridge, short stature, and developmental delay. Dysmorphic features may also include narrow forehead with bitemporal narrowing, arched eyebrows, deep-set eyes, epicanthal folds, hypotelorism, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (including brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures. There have been no further descriptions in the literature since 1981.","Curated_Disease_Description_Source__c":"MONDO:0010749","GARD_Synonym__c":"say meyer syndrome; say-meyer syndrome; trigonocephaly with short stature and developmental delay; trigonocephaly, short stature and developmental delay; trigonocephaly, short stature, and retarded psychomotor development; trigonocephaly, short stature, developmental delay syndrome","Name":"Trigonocephaly-short stature-developmental delay 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":"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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"No data available","Provided_By__c":"ORPHA:3369"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536620","Source__c":"MONDO:0010749","Xref__c":"C536620"},{"URL__c":"https://www.orpha.net/en/disease/detail/3369","Source__c":"C1839125; MONDO:0010749; ORPHA:3369","Xref__c":"ORPHA:3369"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1839125","Source__c":"C1839125","Xref__c":"C1839125"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733066002","Source__c":"C1839125; MONDO:0010749","Xref__c":"733066002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=374138","Source__c":"C1839125","Xref__c":"MEDGEN:374138"},{"URL__c":"https://www.omim.org/entry/314320","Source__c":"C1839125; MONDO:0010749; ORPHA:3369","Xref__c":"OMIM:314320"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010749","Source__c":"GARD:0000243","Xref__c":"MONDO:0010749"}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Head circumference which falls below 2 standard deviations below the mean for age and sex because of insufficient head growth after birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005484","HPO_Synonym__c":"Acquired microcephaly; Deceleration of head growth; Microcephaly, acquired; Microcephaly, postnatal; Postnatal deceleration of head circumference; Postnatal microcephaly","HPO_Name__c":"Secondary microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001518","HPO_Synonym__c":"Birth weight less than 10th percentile; Low birth weight; Small for gestational age","HPO_Name__c":"Small for gestational age","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000218","HPO_Synonym__c":"Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Palate high-arched; Palate, high-arched","HPO_Name__c":"High palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Slow or limited growth after birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008897","HPO_Synonym__c":"Growth delay as children; Growth retardation as children; Postnatal growth deceleration; Postnatal growth deficiency; Postnatal growth failure","HPO_Name__c":"Postnatal growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000601","HPO_Synonym__c":"Abnormally close eyes; Closely spaced eyes; Decreased distance between eye sockets; Decreased distance between eyes; Decreased interpupillary distance; Decreased orbital separation; Ocular hypotelorism","HPO_Name__c":"Hypotelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Protrusion of the contents of the abdominal cavity through the inguinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000023","HPO_Name__c":"Inguinal hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005495","HPO_Name__c":"Metopic suture patent to nasal root","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005494","HPO_Name__c":"Premature posterior fontanelle closure","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3369","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000243","HPO_Synonym__c":"Triangular cranium shape; Triangular skull shape; Wedge shaped cranium; Wedge shaped skull","HPO_Name__c":"Trigonocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000341","HPO_Synonym__c":"Bitemporal narrowing; Bitemporal narrowness; Bitemporal skull narrowing; Decreased width of the forehead; Intertemporal narrowing; Narrow bitemporal diameter; Narrow bitemporal width; Narrow forehead; Temporal narrowness","HPO_Name__c":"Narrow forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001629","HPO_Synonym__c":"Hole in heart wall separating two lower heart chambers; Ventricular septal defects; Ventriculoseptal defect; VSD","HPO_Name__c":"Ventricular septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3369","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:3369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005769","HPO_Name__c":"Fifth finger distal phalanx clinodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000216","HPO_Synonym__c":"Secondary alveolar ridges","HPO_Name__c":"Broad secondary alveolar ridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000237","HPO_Synonym__c":"Small anterior fontanel; Small forehead fontanel","HPO_Name__c":"Small anterior fontanelle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000358","HPO_Synonym__c":"Ear, posterior angulation, increased; Ears rotated toward back of head; Posteriorly angulated ears; Posteriorly rotated; Posteriorly rotated auricles; Posteriorly-angulated ears; Posteriorly-rotated ears","HPO_Name__c":"Posteriorly rotated ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002342","HPO_Synonym__c":"Intellectual disability, moderate; IQ between 34 and 49; Mental retardation, moderate; Moderate mental deficiency; Moderate mental retardation","HPO_Name__c":"Moderate intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011324","HPO_Synonym__c":"Multisutural craniosynostosis","HPO_Name__c":"Multiple suture craniosynostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000444","HPO_Synonym__c":"Beaked nose; Beaklike protrusion; Convex dorsum of nose; Convex nasal dorsum; Hooked nose; Polly beak nasal deformity","HPO_Name__c":"Convex nasal ridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000286","HPO_Synonym__c":"Epicanthal fold; Epicanthal folds; Epicanthic folds; Eye folds; Palpebronasal fold; Plica palpebronasalis; Prominent eye folds","HPO_Name__c":"Epicanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3369","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3369","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Orthopedics","Neurodevelopmental disabilities"],"Account":["Craniofacial Anomalies"]},"synonyms":["say meyer syndrome"," say-meyer syndrome"," trigonocephaly with short stature and developmental delay"," trigonocephaly, short stature and developmental delay"," trigonocephaly, short stature, and retarded psychomotor development"," trigonocephaly, short stature, developmental delay syndrome"]}