Geleophysic dysplasia 3
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Pauline Marzin
- Valérie Cormier-Daire
- view full author information
Available tests
Clinical tests (11 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
- Bulbous nose
Bulbous nose
- MedGen UID: 66013
- Concept ID: C0240543
- 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
- Full cheeks
Full cheeks
- MedGen UID: 355661
- Concept ID: C1866231
- Finding: Finding
Abnormality of head or neck
- Long philtrum
Long philtrum
- MedGen UID: 351278
- Concept ID: C1865014
- Finding: Finding
Abnormality of head or neck
- Round face
Round face
- MedGen UID: 116087
- Concept ID: C0239479
- 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
- Limb undergrowth
Limb undergrowth
- MedGen UID: 116086
- Concept ID: C0239399
- Finding: Finding
Abnormality of limbs
- Limited elbow movement
Limited elbow movement
- MedGen UID: 337930
- Concept ID: C1849955
- Finding: Finding
Abnormality of limbs
- Limited wrist movement
Limited wrist movement
- MedGen UID: 333479
- Concept ID: C1840088
- Finding: Finding
Abnormality of limbs
- Short foot
Short foot
- MedGen UID: 376415
- Concept ID: C1848673
- 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
- Premature birth
Premature birth
- MedGen UID: 57721
- Concept ID: C0151526
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Polyhydramnios
- Abnormality of the cardiovascular system
- Mitral regurgitation
Mitral regurgitation
- MedGen UID: 7670
- Concept ID: C0026266
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Mitral regurgitation
- Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Hepatomegaly
- Abnormality of the immune system
- Pneumonia
Pneumonia
- MedGen UID: 10813
- Concept ID: C0032285
- Finding: Disease or Syndrome
Abnormality of the immune system
- Pneumonia
- Abnormality of the integument
- Thickened skin
Thickened skin
- MedGen UID: 66024
- Concept ID: C0241165
- Finding: Finding
Abnormality of the integument
- Thickened skin
- Abnormality of the musculoskeletal system
- Delayed skeletal maturation
Delayed skeletal maturation
- MedGen UID: 108148
- Concept ID: C0541764
- Finding: Finding
Abnormality of the musculoskeletal system
- Epiphyseal dysplasia
Epiphyseal dysplasia
- MedGen UID: 95932
- Concept ID: C0392476
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Delayed skeletal maturation
- Abnormality of the nervous system
- Sleep apnea
Sleep apnea
- MedGen UID: 11458
- Concept ID: C0037315
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Sleep apnea
- Abnormality of the respiratory system
- Dyspnea
Dyspnea
- MedGen UID: 3938
- Concept ID: C0013404
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Respiratory failure
Respiratory failure
- MedGen UID: 257837
- Concept ID: C1145670
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Subglottic stenosis
Subglottic stenosis
- MedGen UID: 68668
- Concept ID: C0238441
- Finding: Anatomical Abnormality
Abnormality of the respiratory system
- Tracheal stenosis
Tracheal stenosis
- MedGen UID: 21227
- Concept ID: C0040583
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Dyspnea
- Abnormality of the voice
- Hoarse voice
Hoarse voice
- MedGen UID: 5602
- Concept ID: C0019825
- Finding: Sign or Symptom
Abnormality of the voice
- Hoarse voice
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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