Autosomal recessive cutis laxa type 2D
- Synonyms
- CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
Summary
Available tests
Clinical tests (11 available)
Clinical features
Help- Abnormality of head or neck
- Blepharophimosis
Blepharophimosis
- MedGen UID: 2670
- Concept ID: C0005744
- Finding: Congenital Abnormality
Abnormality of head or neck
- Bulbous nose
Bulbous nose
- MedGen UID: 66013
- Concept ID: C0240543
- Finding: Finding
Abnormality of head or neck
- Downslanted palpebral fissures
Downslanted palpebral fissures
- MedGen UID: 98391
- Concept ID: C0423110
- Finding: Finding
Abnormality of head or neck
- Entropion
Entropion
- MedGen UID: 41813
- Concept ID: C0014390
- Finding: Disease or Syndrome
Abnormality of head or neck
- Mask-like facies
Mask-like facies
- MedGen UID: 140860
- Concept ID: C0424448
- Finding: Finding
Abnormality of head or neck
- Narrow naris
Narrow naris
- MedGen UID: 604875
- Concept ID: C0426439
- Finding: Finding
Abnormality of head or neck
- Pointed chin
Pointed chin
- MedGen UID: 336193
- Concept ID: C1844505
- Finding: Finding
Abnormality of head or neck
- Triangular face
Triangular face
- MedGen UID: 324383
- Concept ID: C1835884
- 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
- Blepharophimosis
- Abnormality of limbs
- Clubfoot
Clubfoot
- MedGen UID: 3130
- Concept ID: C0009081
- Finding: Congenital Abnormality
Abnormality of limbs
- Clubfoot
- Abnormality of the cardiovascular system
- Ascending tubular aorta aneurysm
Ascending tubular aorta aneurysm
- MedGen UID: 163631
- Concept ID: C0856747
- Finding: Anatomical Abnormality
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
- Congestive heart failure
Congestive heart failure
- MedGen UID: 9169
- Concept ID: C0018802
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy
- MedGen UID: 2881
- Concept ID: C0007194
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Hypoplastic right heart
Hypoplastic right heart
- MedGen UID: 451017
- Concept ID: C0265856
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Right bundle branch block
Right bundle branch block
- MedGen UID: 88445
- Concept ID: C0085615
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Ascending tubular aorta aneurysm
- Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Cataract
- Abnormality of the genitourinary system
- Bilateral cryptorchidism
Bilateral cryptorchidism
- MedGen UID: 96568
- Concept ID: C0431663
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Micropenis
Micropenis
- MedGen UID: 1633603
- Concept ID: C4551492
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Bilateral cryptorchidism
- Abnormality of the integument
- Cutis laxa
Cutis laxa
- MedGen UID: 8206
- Concept ID: C0010495
- Finding: Disease or Syndrome
Abnormality of the integument
- Redundant skin
Redundant skin
- MedGen UID: 154379
- Concept ID: C0581342
- Finding: Pathologic Function
Abnormality of the integument
- Cutis laxa
- Abnormality of the musculoskeletal system
- Camptodactyly
Camptodactyly
- MedGen UID: 195780
- Concept ID: C0685409
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Developmental dysplasia of the hip
Developmental dysplasia of the hip
- MedGen UID: 1640560
- Concept ID: C4551649
- 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
- Hip dislocation
Hip dislocation
- MedGen UID: 42455
- Concept ID: C0019554
- Finding: Injury or Poisoning
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
- Kyphoscoliosis
Kyphoscoliosis
- MedGen UID: 154361
- Concept ID: C0575158
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Reduced subcutaneous adipose tissue
Reduced subcutaneous adipose tissue
- MedGen UID: 387876
- Concept ID: C1857657
- Finding: Finding
Abnormality of the musculoskeletal system
- Retrognathia
Retrognathia
- MedGen UID: 19766
- Concept ID: C0035353
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Camptodactyly
- 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
- Gliosis
Gliosis
- MedGen UID: 4899
- Concept ID: C0017639
- Finding: Pathologic Function
Abnormality of the nervous system
- Hypoplasia of the corpus callosum
Hypoplasia of the corpus callosum
- MedGen UID: 138005
- Concept ID: C0344482
- 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
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Delayed speech and language development
- Abnormality of the respiratory system
- Pneumothorax
Pneumothorax
- MedGen UID: 19365
- Concept ID: C0032326
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Pneumothorax
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Macrotia
Macrotia
- MedGen UID: 488785
- Concept ID: C0152421
- Finding: Congenital Abnormality
Ear malformation
- Protruding ear
Protruding ear
- MedGen UID: 343309
- Concept ID: C1855285
- Finding: Finding
Ear malformation
- Low-set ears
- Growth abnormality
- Disproportionate tall stature
Disproportionate tall stature
- MedGen UID: 323048
- Concept ID: C1836996
- Finding: Finding
Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Disproportionate tall stature
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