Frontometaphyseal dysplasia 1
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- References
- Chapter Notes
- Authors:
- Stephen Robertson
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (79 available)
Clinical features
Help- Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Coarse facial features
Coarse facial features
- MedGen UID: 335284
- Concept ID: C1845847
- Finding: Finding
Abnormality of head or neck
- Delayed eruption of teeth
Delayed eruption of teeth
- MedGen UID: 68678
- Concept ID: C0239174
- Finding: Finding
Abnormality of head or neck
- Dental malocclusion
Dental malocclusion
- MedGen UID: 9869
- Concept ID: C0024636
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Downslanted palpebral fissures
Downslanted palpebral fissures
- MedGen UID: 98391
- Concept ID: C0423110
- Finding: Finding
Abnormality of head or neck
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- Finding: Congenital Abnormality
Abnormality of head or neck
- Persistence of primary teeth
Persistence of primary teeth
- MedGen UID: 75597
- Concept ID: C0266050
- Finding: Disease or Syndrome
Abnormality of head or neck
- Pointed chin
Pointed chin
- MedGen UID: 336193
- Concept ID: C1844505
- Finding: Finding
Abnormality of head or neck
- Prominent supraorbital ridges
Prominent supraorbital ridges
- MedGen UID: 333982
- Concept ID: C1842060
- Finding: Finding
Abnormality of head or neck
- Selective tooth agenesis
Selective tooth agenesis
- MedGen UID: 370882
- Concept ID: C1970308
- Finding: Congenital Abnormality
Abnormality of head or neck
- Short chin
Short chin
- MedGen UID: 784514
- Concept ID: C3697248
- 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
- Cleft palate
- Abnormality of limbs
- Ankle flexion contracture
Ankle flexion contracture
- MedGen UID: 332440
- Concept ID: C1837407
- Finding: Anatomical Abnormality
Abnormality of limbs
- Arachnodactyly
Arachnodactyly
- MedGen UID: 2047
- Concept ID: C0003706
- Finding: Congenital Abnormality
Abnormality of limbs
- Broad phalanges of the hand
Broad phalanges of the hand
- MedGen UID: 867033
- Concept ID: C4021391
- Finding: Anatomical Abnormality
Abnormality of limbs
- Coxa valga
Coxa valga
- MedGen UID: 116080
- Concept ID: C0239137
- Finding: Finding
Abnormality of limbs
- Dislocated radial head
Dislocated radial head
- MedGen UID: 488814
- Concept ID: C0265563
- Finding: Congenital Abnormality
Abnormality of limbs
- Genu valgum
Genu valgum
- MedGen UID: 154364
- Concept ID: C0576093
- Finding: Anatomical Abnormality
Abnormality of limbs
- Knee flexion contracture
Knee flexion contracture
- MedGen UID: 98042
- Concept ID: C0409355
- Finding: Finding
Abnormality of limbs
- Limited elbow movement
Limited elbow movement
- MedGen UID: 337930
- Concept ID: C1849955
- Finding: Finding
Abnormality of limbs
- Long foot
Long foot
- MedGen UID: 154365
- Concept ID: C0576225
- Finding: Finding
Abnormality of limbs
- Long phalanx of finger
Long phalanx of finger
- MedGen UID: 870635
- Concept ID: C4025087
- Finding: Anatomical Abnormality
Abnormality of limbs
- Scapular winging
Scapular winging
- MedGen UID: 66822
- Concept ID: C0240953
- Finding: Anatomical Abnormality
Abnormality of limbs
- Ankle flexion contracture
- Abnormality of the cardiovascular system
- Cor pulmonale
Cor pulmonale
- MedGen UID: 18765
- Concept ID: C0034072
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Mitral valve prolapse
Mitral valve prolapse
- MedGen UID: 7671
- Concept ID: C0026267
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Cor pulmonale
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Hypertelorism
- Abnormality of the genitourinary system
- Hydronephrosis
Hydronephrosis
- MedGen UID: 42531
- Concept ID: C0020295
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Hydroureter
Hydroureter
- MedGen UID: 101073
- Concept ID: C0521620
- Finding: Anatomical Abnormality
Abnormality of the genitourinary system
- Hydronephrosis
- Abnormality of the integument
- Hirsutism
Hirsutism
- MedGen UID: 42461
- Concept ID: C0019572
- Finding: Disease or Syndrome
Abnormality of the integument
- Hirsutism
- Abnormality of the musculoskeletal system
- Absent frontal sinuses
Absent frontal sinuses
- MedGen UID: 343405
- Concept ID: C1855669
- Finding: Finding
Abnormality of the musculoskeletal system
- Antegonial notching of mandible
Antegonial notching of mandible
- MedGen UID: 334972
- Concept ID: C1844509
- Finding: Finding
Abnormality of the musculoskeletal system
- Anteriorly placed odontoid process
Anteriorly placed odontoid process
- MedGen UID: 375441
- Concept ID: C1844512
- Finding: Finding
Abnormality of the musculoskeletal system
- Bowing of the long bones
Bowing of the long bones
- MedGen UID: 340849
- Concept ID: C1855340
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Camptodactyly of finger
Camptodactyly of finger
- MedGen UID: 98041
- Concept ID: C0409348
- Finding: Finding
Abnormality of the musculoskeletal system
- Carpal synostosis
Carpal synostosis
- MedGen UID: 98468
- Concept ID: C0431863
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Coat hanger sign of ribs
Coat hanger sign of ribs
- MedGen UID: 870562
- Concept ID: C4025010
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Craniosynostosis syndrome
Craniosynostosis syndrome
- MedGen UID: 1163
- Concept ID: C0010278
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Elbow flexion contracture
Elbow flexion contracture
- MedGen UID: 98367
- Concept ID: C0409338
- Finding: Acquired Abnormality
Abnormality of the musculoskeletal system
- Fused cervical vertebrae
Fused cervical vertebrae
- MedGen UID: 854386
- Concept ID: C3887527
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hypoplasia of the musculature
Hypoplasia of the musculature
- MedGen UID: 66010
- Concept ID: C0240414
- Finding: Finding
Abnormality of the musculoskeletal system
- Increased density of long bone diaphyses
Increased density of long bone diaphyses
- MedGen UID: 375442
- Concept ID: C1844516
- Finding: Finding
Abnormality of the musculoskeletal system
- Interphalangeal joint contracture of finger
Interphalangeal joint contracture of finger
- MedGen UID: 867413
- Concept ID: C4021784
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Klippel-Feil syndrome
Klippel-Feil syndrome
- MedGen UID: 9645
- Concept ID: C0022738
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Large foramen magnum
Large foramen magnum
- MedGen UID: 336194
- Concept ID: C1844508
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscular atrophy
Muscular atrophy
- MedGen UID: 892680
- Concept ID: C0541794
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Partial fusion of carpals
Partial fusion of carpals
- MedGen UID: 375444
- Concept ID: C1844519
- Finding: Finding
Abnormality of the musculoskeletal system
- Partial fusion of tarsals
Partial fusion of tarsals
- MedGen UID: 336197
- Concept ID: C1844520
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Wrist flexion contracture
Wrist flexion contracture
- MedGen UID: 592338
- Concept ID: C0409345
- Finding: Acquired Abnormality
Abnormality of the musculoskeletal system
- Absent frontal sinuses
- 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
- Intellectual disability
- Abnormality of the respiratory system
- Stridor
Stridor
- MedGen UID: 11613
- Concept ID: C0038450
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Stridor
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
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