Cardiac, facial, and digital anomalies with developmental delay
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (6 available)
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
- Blepharophimosis
Blepharophimosis
- MedGen UID: 2670
- Concept ID: C0005744
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Bulbous nose
Bulbous nose
- MedGen UID: 66013
- Concept ID: C0240543
- Finding: Finding
Abnormality of head or neck
- Cystic hygroma
Cystic hygroma
- MedGen UID: 60195
- Concept ID: C0206620
- Finding: Neoplastic Process
Abnormality of head or neck
- Epicanthus
Epicanthus
- MedGen UID: 151862
- Concept ID: C0678230
- Finding: Congenital Abnormality
Abnormality of head or neck
- Redundant neck skin
Redundant neck skin
- MedGen UID: 374440
- Concept ID: C1840319
- Finding: Finding
Abnormality of head or neck
- Short neck
Short neck
- MedGen UID: 99267
- Concept ID: C0521525
- Finding: Finding
Abnormality of head or neck
- Telecanthus
Telecanthus
- MedGen UID: 140836
- Concept ID: C0423113
- Finding: Finding
Abnormality of head or neck
- Anteverted nares
- Abnormality of limbs
- Clinodactyly
Clinodactyly
- MedGen UID: 1644094
- Concept ID: C4551485
- Finding: Congenital Abnormality
Abnormality of limbs
- Long hallux
Long hallux
- MedGen UID: 400514
- Concept ID: C1864375
- Finding: Finding
Abnormality of limbs
- Overlapping toe
Overlapping toe
- MedGen UID: 182531
- Concept ID: C0920299
- Finding: Anatomical Abnormality
Abnormality of limbs
- Pedal edema
Pedal edema
- MedGen UID: 116085
- Concept ID: C0239340
- Finding: Pathologic Function
Abnormality of limbs
- Pes planus
Pes planus
- MedGen UID: 42034
- Concept ID: C0016202
- Finding: Anatomical Abnormality
Abnormality of limbs
- Radial deviation of finger
Radial deviation of finger
- MedGen UID: 322852
- Concept ID: C1836189
- Finding: Finding
Abnormality of limbs
- Sandal gap
Sandal gap
- MedGen UID: 374376
- Concept ID: C1840069
- Finding: Finding
Abnormality of limbs
- Syndactyly
Syndactyly
- MedGen UID: 52619
- Concept ID: C0039075
- Finding: Congenital Abnormality
Abnormality of limbs
- Ulnar deviation of finger
Ulnar deviation of finger
- MedGen UID: 68543
- Concept ID: C0231679
- Finding: Finding
Abnormality of limbs
- Clinodactyly
- Abnormality of prenatal development or birth
- Premature birth
Premature birth
- MedGen UID: 57721
- Concept ID: C0151526
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Single umbilical artery
Single umbilical artery
- MedGen UID: 278026
- Concept ID: C1384670
- Finding: Congenital Abnormality
Abnormality of prenatal development or birth
- Thickened nuchal skin fold
Thickened nuchal skin fold
- MedGen UID: 324644
- Concept ID: C1836940
- Finding: Finding
Abnormality of prenatal development or birth
- Premature birth
- Abnormality of the breast
- Inversion of nipple
Inversion of nipple
- MedGen UID: 82844
- Concept ID: C0269269
- Finding: Anatomical Abnormality
Abnormality of the breast
- Wide intermamillary distance
Wide intermamillary distance
- MedGen UID: 473489
- Concept ID: C1827524
- Finding: Finding
Abnormality of the breast
- Inversion of nipple
- Abnormality of the cardiovascular system
- Aortic valve stenosis
Aortic valve stenosis
- MedGen UID: 1621
- Concept ID: C0003507
- Finding: Pathologic Function
Abnormality of the cardiovascular system
- Atrial septal defect
Atrial septal defect
- MedGen UID: 6753
- Concept ID: C0018817
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Bicuspid aortic valve
Bicuspid aortic valve
- MedGen UID: 57436
- Concept ID: C0149630
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Coarctation of aorta
Coarctation of aorta
- MedGen UID: 1617
- Concept ID: C0003492
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Double outlet right ventricle
Double outlet right ventricle
- MedGen UID: 41649
- Concept ID: C0013069
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Hypoplastic left heart syndrome
Hypoplastic left heart syndrome
- MedGen UID: 57746
- Concept ID: C0152101
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Mitral atresia disorder
Mitral atresia disorder
- MedGen UID: 91035
- Concept ID: C0344760
- Finding: Congenital Abnormality
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
- Pulmonary artery atresia
Pulmonary artery atresia
- MedGen UID: 82723
- Concept ID: C0265908
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Supravalvular pulmonary stenosis
Supravalvular pulmonary stenosis
- MedGen UID: 481842
- Concept ID: C3280212
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Ventricular septal defect
Ventricular septal defect
- MedGen UID: 42366
- Concept ID: C0018818
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Aortic valve stenosis
- Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
Abnormality of the digestive system
- Feeding difficulties
- Abnormality of the eye
- Cerebral visual impairment
Cerebral visual impairment
- MedGen UID: 890568
- Concept ID: C4048268
- Finding: Pathologic Function
Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Optic atrophy
Optic atrophy
- MedGen UID: 18180
- Concept ID: C0029124
- Finding: Disease or Syndrome
Abnormality of the eye
- Ptosis
Ptosis
- MedGen UID: 2287
- Concept ID: C0005745
- Finding: Disease or Syndrome
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Cerebral visual impairment
- Abnormality of the immune system
- Recurrent infections
Recurrent infections
- MedGen UID: 65998
- Concept ID: C0239998
- Finding: Finding
Abnormality of the immune system
- Recurrent infections
- Abnormality of the integument
- Abnormal number of hair whorls
Abnormal number of hair whorls
- MedGen UID: 869269
- Concept ID: C4023695
- Finding: Finding
Abnormality of the integument
- Keratosis pilaris
Keratosis pilaris
- MedGen UID: 82664
- Concept ID: C0263383
- Finding: Disease or Syndrome
Abnormality of the integument
- Abnormal number of hair whorls
- Abnormality of the musculoskeletal system
- Craniosynostosis syndrome
Craniosynostosis syndrome
- MedGen UID: 1163
- Concept ID: C0010278
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Delayed skeletal maturation
Delayed skeletal maturation
- MedGen UID: 108148
- Concept ID: C0541764
- Finding: Finding
Abnormality of the musculoskeletal system
- Hiatus hernia
Hiatus hernia
- MedGen UID: 483347
- Concept ID: C3489393
- Finding: Acquired Abnormality
Abnormality of the musculoskeletal system
- Hypertonia
Hypertonia
- MedGen UID: 10132
- Concept ID: C0026826
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Inguinal hernia
Inguinal hernia
- MedGen UID: 6817
- Concept ID: C0019294
- Finding: Finding
Abnormality of the musculoskeletal system
- Joint contracture
Joint contracture
- MedGen UID: 3228
- Concept ID: C0009918
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Joint hypermobility
Joint hypermobility
- MedGen UID: 336793
- Concept ID: C1844820
- Finding: Finding
Abnormality of the musculoskeletal system
- Macrocephaly
Macrocephaly
- MedGen UID: 745757
- Concept ID: C2243051
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Pectus carinatum
Pectus carinatum
- MedGen UID: 57643
- Concept ID: C0158731
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Umbilical hernia
Umbilical hernia
- MedGen UID: 9232
- Concept ID: C0019322
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Craniosynostosis syndrome
- Abnormality of the nervous system
- Autistic behavior
Autistic behavior
- MedGen UID: 163547
- Concept ID: C0856975
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Cerebral atrophy
Cerebral atrophy
- MedGen UID: 116012
- Concept ID: C0235946
- Finding: Disease or Syndrome
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
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Tethered cord
Tethered cord
- MedGen UID: 36387
- Concept ID: C0080218
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Autistic behavior
- Abnormality of the respiratory system
- Neonatal respiratory distress
Neonatal respiratory distress
- MedGen UID: 924182
- Concept ID: C4281993
- Finding: Finding
Abnormality of the respiratory system
- Neonatal respiratory distress
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Hearing impairment
- Growth abnormality
- Decreased body weight
Decreased body weight
- MedGen UID: 1806755
- Concept ID: C5574742
- Finding: Finding
Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Decreased body weight
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.