Cutis laxa with osteodystrophy
- Synonyms
- ATP6V0A2-Related Cutis Laxa; Autosomal recessive cutis laxa type 2A; CUTIS LAXA WITH BONE DYSTROPHY; CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION; CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAY; CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; Cutis laxa with joint laxity and retarded development; Debre-Type Cutis Laxa
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
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
- Chapter Notes
- References
- Authors:
- Lionel Van Maldergem
- William Dobyns
- Uwe Kornak
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (66 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
- Carious teeth
Carious teeth
- MedGen UID: 8288
- Concept ID: C0011334
- Finding: Disease or Syndrome
Abnormality of head or neck
- Downslanted palpebral fissures
Downslanted palpebral fissures
- MedGen UID: 98391
- Concept ID: C0423110
- Finding: Finding
Abnormality of head or neck
- Flat face
Flat face
- MedGen UID: 342829
- Concept ID: C1853241
- 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
- Long philtrum
Long philtrum
- MedGen UID: 351278
- Concept ID: C1865014
- Finding: Finding
Abnormality of head or neck
- Midface retrusion
Midface retrusion
- MedGen UID: 339938
- Concept ID: C1853242
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Narrow mouth
Narrow mouth
- MedGen UID: 44435
- Concept ID: C0026034
- Finding: Congenital Abnormality
Abnormality of head or neck
- Short nose
Short nose
- MedGen UID: 343052
- Concept ID: C1854114
- Finding: Finding
Abnormality of head or neck
- Anteverted nares
- Abnormality of limbs
- Pes planus
Pes planus
- MedGen UID: 42034
- Concept ID: C0016202
- Finding: Anatomical Abnormality
Abnormality of limbs
- Pes planus
- Abnormality of metabolism/homeostasis
- Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin
- MedGen UID: 413671
- Concept ID: C2749688
- Finding: Finding
Abnormality of metabolism/homeostasis
- Abnormal isoelectric focusing of serum transferrin
- Abnormality of the digestive system
- Feeding difficulties in infancy
Feeding difficulties in infancy
- MedGen UID: 436211
- Concept ID: C2674608
- Finding: Finding
Abnormality of the digestive system
- Feeding difficulties in infancy
- Abnormality of the eye
- Myopia
Myopia
- MedGen UID: 44558
- Concept ID: C0027092
- Finding: Disease or Syndrome
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Myopia
- Abnormality of the integument
- Abnormality of hair texture
Abnormality of hair texture
- MedGen UID: 869296
- Concept ID: C4023722
- Finding: Finding
Abnormality of the integument
- Brittle hair
Brittle hair
- MedGen UID: 120480
- Concept ID: C0263490
- Finding: Disease or Syndrome
Abnormality of the integument
- Coarse hair
Coarse hair
- MedGen UID: 124454
- Concept ID: C0277959
- Finding: Finding
Abnormality of the integument
- Cutis laxa
Cutis laxa
- MedGen UID: 8206
- Concept ID: C0010495
- Finding: Disease or Syndrome
Abnormality of the integument
- Excessive wrinkled skin
Excessive wrinkled skin
- MedGen UID: 870444
- Concept ID: C4024890
- Finding: Finding
Abnormality of the integument
- Redundant skin
Redundant skin
- MedGen UID: 154379
- Concept ID: C0581342
- Finding: Pathologic Function
Abnormality of the integument
- Abnormality of hair texture
- Abnormality of the musculoskeletal system
- Congenital hip dislocation
Congenital hip dislocation
- MedGen UID: 9258
- Concept ID: C0019555
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Dandy-Walker syndrome
Dandy-Walker syndrome
- MedGen UID: 4150
- Concept ID: C0010964
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
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
- Inguinal hernia
Inguinal hernia
- MedGen UID: 6817
- Concept ID: C0019294
- Finding: Finding
Abnormality of the musculoskeletal system
- Joint hypermobility
Joint hypermobility
- MedGen UID: 336793
- Concept ID: C1844820
- Finding: Finding
Abnormality of the musculoskeletal system
- Lipodystrophy
Lipodystrophy
- MedGen UID: 6111
- Concept ID: C0023787
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Malar flattening
Malar flattening
- MedGen UID: 347616
- Concept ID: C1858085
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Wide anterior fontanel
Wide anterior fontanel
- MedGen UID: 400926
- Concept ID: C1866134
- Finding: Finding
Abnormality of the musculoskeletal system
- Congenital hip dislocation
- 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
- Macrogyria
Macrogyria
- MedGen UID: 120579
- Concept ID: C0266483
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Polymicrogyria
Polymicrogyria
- MedGen UID: 78605
- Concept ID: C0266464
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Intellectual disability
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Low-set ears
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Failure to thrive
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