ZTTK syndrome

Title

Other Names:

Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Global developmental delay		0001263
30%-79% of people have these symptoms
Autistic behavior		0000729
Failure to thrive in infancy	Faltering weight in infancy Weight faltering in infancy [ more ]	0001531
Hypermetropia	Farsightedness Long-sightedness [ more ]	0000540
Hypoplasia of the corpus callosum	Underdevelopment of part of brain called corpus callosum	0002079
Infantile muscular hypotonia	Decreased muscle tone in infant	0008947
Intellectual disability, severe	Early and severe mental retardation Mental retardation, severe Severe mental retardation [ more ]	0010864
Intrauterine growth retardation	Prenatal growth deficiency Prenatal growth retardation [ more ]	0001511
Proportionate short stature		0003508
5%-29% of people have these symptoms
Abnormal common carotid artery morphology	Abnormality of the common carotid artery	0430021
Abnormality of cardiovascular system morphology		0030680
Absent gallbladder		0011467
Absent thumb	Absent thumbs	0009777
Arachnodactyly	Long slender fingers Spider fingers [ more ]	0001166
Arachnoid cyst	Fluid-filled sac located in membrane surrounding brain or spinal cord	0100702
Arnold-Chiari malformation		0002308
Atrial septal defect	An opening in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ]	0001631
Auditory hallucinations	Hallucinations of sound Hearing sounds [ more ]	0008765
Bifid uvula		0000193
Bilateral renal dysplasia		0012582
Blue sclerae	Whites of eyes are a bluish-gray color	0000592
Broad lateral eyebrow		0007933
Cerebellar hemisphere hypoplasia		0100307
Cerebral visual impairment		0100704
Cervical ribs		0000891
Chronic diarrhea		0002028
Curly hair		0002212
Decreased circulating IgG level		0004315
Deeply set eye	Deep set eye Deep-set eyes Sunken eye [ more ]	0000490
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Developmental regression	Loss of developmental milestones Mental deterioration in childhood [ more ]	0002376
Dilation of lateral ventricles		0006956
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Downturned corners of mouth	Downturned corners of the mouth Downturned mouth [ more ]	0002714
Dysphagia	Poor swallowing Swallowing difficulties Swallowing difficulty [ more ]	0002015
Dysplastic corpus callosum		0006989
Emphysema		0002097
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Esotropia	Inward turning cross eyed	0000565
Exotropia	Outward facing eye ball	0000577
Facial asymmetry	Asymmetry of face Crooked face Unsymmetrical face [ more ]	0000324
Fetal distress		0025116
Frontal bossing		0002007
Full cheeks	Apple cheeks Big cheeks Increased size of cheeks Large cheeks [ more ]	0000293
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Gastrointestinal dysmotility		0002579
Gastroparesis	Delayed gastric emptying	0002578
Gastrostomy tube feeding in infancy		0011471
Generalized non-motor (absence) seizure	Brief seizures with staring spells	0002121
Global brain atrophy	Generalized brain degeneration	0002283
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Hemivertebrae	Missing part of vertebrae	0002937
Horseshoe kidney	Horseshoe kidneys	0000085
Hyperextensibility at elbow		0010485
Hyperextensible hand joints		0005639
Hypoplasia of the maxilla	Decreased size of maxilla Decreased size of upper jaw Maxillary deficiency Maxillary retrusion Small maxilla Small upper jaw Small upper jaw bones Upper jaw deficiency Upper jaw retrusion [ more ]	0000327
Ischemic stroke		0002140
Kyphoscoliosis		0002751
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Lumbar hyperlordosis	Excessive inward curvature of lower spine	0002938
Metopic synostosis		0011330
Myopia	Close sighted Near sighted Near sightedness Nearsightedness [ more ]	0000545
Narrow forehead	Decreased width of the forehead	0000341
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Optic atrophy		0000648
Optic nerve hypoplasia		0000609
Patent ductus arteriosus after birth at term		0011648
Periventricular leukomalacia		0006970
Polymicrogyria	More grooves in brain	0002126
Progressive ventriculomegaly		0007100
Progressive visual loss	Progressive loss of vision Progressive vision loss Progressive visual impairment Slowly progressive visual loss Vision loss, progressive Visual loss, progressive [ more ]	0000529
Prominent forehead	Pronounced forehead Protruding forehead [ more ]	0011220
Protruding ear	Prominent ear Prominent ears [ more ]	0000411
Recurrent infections	Frequent infections Frequent, severe infections Increased frequency of infection infections, recurrent Predisposition to infections Susceptibility to infection [ more ]	0002719
Relative macrocephaly	Relatively large head	0004482
Respiratory failure		0002878
Rib fusion	Fused ribs	0000902
Sagittal craniosynostosis	Early closure of midline skull joint Midline skull joint closes early [ more ]	0004442
Secretory IgA deficiency		0004433
Seizure		0001250
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Short philtrum		0000322
Simplified gyral pattern		0009879
Slender long bone	Long bones slender Thin long bones [ more ]	0003100
Smooth philtrum		0000319
Soft, doughy skin		0001027
Sparse eyebrow	Sparse eyebrows	0045075
Spasticity	Involuntary muscle stiffness, contraction, or spasm	0001257
Submucous cleft soft palate		0011819
Thin vermilion border	Decreased volume of lip Thin lips [ more ]	0000233
Transient ischemic attack	Mini stroke	0002326
Unilateral lung agenesis		0030707
Unilateral renal agenesis	Absent kidney on one side Missing one kidney Single kidney [ more ]	0000122
Wide nasal bridge	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 Wide bridge of nose Widened nasal bridge [ more ]	0000431
1%-4% of people have these symptoms
Abnormal heart morphology	Abnormality of the heart Abnormally shaped heart Heart defect [ more ]	0001627
Percent of people who have these symptoms is not available through HPO
Abnormality of the dentition	Abnormal dentition Abnormal teeth Dental abnormality [ more ]	0000164
Abnormality of the ribs	Rib abnormalities	0000772
Autosomal dominant inheritance		0000006
Cerebellar hypoplasia	Small cerebellum Underdeveloped cerebellum [ more ]	0001321
Cleft palate	Cleft roof of mouth	0000175
Craniosynostosis		0001363
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
Flexion contracture	Flexed joint that cannot be straightened	0001371
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
High palate	Elevated palate Increased palatal height [ more ]	0000218
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Joint hypermobility	Double-Jointed Flexible joints Increased mobility of joints [ more ]	0001382
Kyphosis	Hunched back Round back [ more ]	0002808
Narrow mouth	Small mouth	0000160
Scoliosis		0002650
Short foot	Short feet Small feet [ more ]	0001773
Short stature	Decreased body height Small stature [ more ]	0004322
Small hand	Disproportionately small hands	0200055
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Thin upper lip vermilion	Thin upper lip	0000219
Ventriculomegaly		0002119

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Last updated: 7/1/2020

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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