Chitayat syndrome
Summary
Available tests
Clinical tests (10 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of head or neck
- Anteverted nares
Anteverted nares
- MedGen UID: 326648
- Concept ID: C1840077
- Finding: Finding
Abnormality of head or neck
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- Long philtrum
Long philtrum
- MedGen UID: 351278
- Concept ID: C1865014
- Finding: Finding
Abnormality of head or neck
- Narrow forehead
Narrow forehead
- MedGen UID: 326956
- Concept ID: C1839758
- Finding: Finding
Abnormality of head or neck
- Short columella
Short columella
- MedGen UID: 341783
- Concept ID: C1857479
- Finding: Finding
Abnormality of head or neck
- Thick vermilion border
Thick vermilion border
- MedGen UID: 332232
- Concept ID: C1836543
- Finding: Finding
Abnormality of head or neck
- Wide nasal bridge
Wide nasal bridge
- MedGen UID: 341441
- Concept ID: C1849367
- Finding: Finding
Abnormality of head or neck
- Anteverted nares
- Abnormality of limbs
- Brachydactyly
Brachydactyly
- MedGen UID: 67454
- Concept ID: C0221357
- Finding: Congenital Abnormality
Abnormality of limbs
- Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
- MedGen UID: 340456
- Concept ID: C1850049
- Finding: Congenital Abnormality
Abnormality of limbs
- Finger hyperphalangy
Finger hyperphalangy
- MedGen UID: 892886
- Concept ID: C4072906
- Finding: Anatomical Abnormality
Abnormality of limbs
- Hallux valgus
Hallux valgus
- MedGen UID: 5416
- Concept ID: C0018536
- Finding: Anatomical Abnormality
Abnormality of limbs
- Short 2nd finger
Short 2nd finger
- MedGen UID: 396302
- Concept ID: C1862142
- Finding: Finding
Abnormality of limbs
- Short middle phalanx of the 2nd finger
Short middle phalanx of the 2nd finger
- MedGen UID: 867077
- Concept ID: C4021435
- Finding: Anatomical Abnormality
Abnormality of limbs
- Short middle phalanx of the 5th finger
Short middle phalanx of the 5th finger
- MedGen UID: 322335
- Concept ID: C1834060
- Finding: Anatomical Abnormality
Abnormality of limbs
- Short proximal phalanx of hallux
Short proximal phalanx of hallux
- MedGen UID: 396305
- Concept ID: C1862159
- Finding: Finding
Abnormality of limbs
- Brachydactyly
- Abnormality of prenatal development or birth
- Polyhydramnios
Polyhydramnios
- MedGen UID: 6936
- Concept ID: C0020224
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Polyhydramnios
- Abnormality of the cardiovascular system
- Patent ductus arteriosus
Patent ductus arteriosus
- MedGen UID: 4415
- Concept ID: C0013274
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Patent ductus arteriosus
- Abnormality of the digestive system
- Gastroesophageal reflux
Gastroesophageal reflux
- MedGen UID: 1368658
- Concept ID: C4317146
- Finding: Finding
Abnormality of the digestive system
- Gastroesophageal reflux
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Proptosis
Proptosis
- MedGen UID: 41917
- Concept ID: C0015300
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypertelorism
- Abnormality of the musculoskeletal system
- Diaphragmatic eventration
Diaphragmatic eventration
- MedGen UID: 8359
- Concept ID: C0011981
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Flat occiput
Flat occiput
- MedGen UID: 332439
- Concept ID: C1837402
- Finding: Finding
Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Pectus excavatum
Pectus excavatum
- MedGen UID: 781174
- Concept ID: C2051831
- Finding: Finding
Abnormality of the musculoskeletal system
- Diaphragmatic eventration
- Abnormality of the nervous system
- Delayed speech and language development
Delayed speech and language development
- MedGen UID: 105318
- Concept ID: C0454644
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Delayed speech and language development
- Abnormality of the respiratory system
- Bronchomalacia
Bronchomalacia
- MedGen UID: 82679
- Concept ID: C0264353
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Interstitial emphysema
Interstitial emphysema
- MedGen UID: 234586
- Concept ID: C1370824
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Recurrent respiratory infections
Recurrent respiratory infections
- MedGen UID: 812812
- Concept ID: C3806482
- Finding: Finding
Abnormality of the respiratory system
- Respiratory distress
Respiratory distress
- MedGen UID: 96907
- Concept ID: C0476273
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Tracheomalacia
Tracheomalacia
- MedGen UID: 215296
- Concept ID: C0948187
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Bronchomalacia
- Ear malformation
- Overfolded helix
Overfolded helix
- MedGen UID: 325239
- Concept ID: C1837731
- Finding: Finding
Ear malformation
- Overfolded helix
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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