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Disease Profile

ZTTK syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

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

Categories

Congenital and Genetic Diseases; Nervous System Diseases

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.

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

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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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