Limb-mammary syndrome
- Synonyms
- Mammary hypoplasia, ectrodactyly, and other hand/foot anomalies
- Modes of inheritance
- Autosomal dominant 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:
- V Reid Sutton
- Hans van Bokhoven
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (33 available)
Clinical features
Help- Abnormality of head or neck
- Bifid uvula
Bifid uvula
- MedGen UID: 1646931
- Concept ID: C4551488
- Finding: Congenital Abnormality
Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Lacrimal duct atresia
Lacrimal duct atresia
- MedGen UID: 576318
- Concept ID: C0344511
- Finding: Congenital Abnormality
Abnormality of head or neck
- Partial congenital absence of teeth
Partial congenital absence of teeth
- MedGen UID: 43794
- Concept ID: C0020608
- Finding: Congenital Abnormality
Abnormality of head or neck
- Bifid uvula
- Abnormality of limbs
- Hallux valgus
Hallux valgus
- MedGen UID: 5416
- Concept ID: C0018536
- Finding: Anatomical Abnormality
Abnormality of limbs
- Split foot
Split foot
- MedGen UID: 140919
- Concept ID: C0432028
- Finding: Congenital Abnormality
Abnormality of limbs
- Split hand
Split hand
- MedGen UID: 397570
- Concept ID: C2699510
- Finding: Congenital Abnormality
Abnormality of limbs
- Syndactyly
Syndactyly
- MedGen UID: 52619
- Concept ID: C0039075
- Finding: Congenital Abnormality
Abnormality of limbs
- Hallux valgus
- Abnormality of the breast
- Hypoplastic nipples
Hypoplastic nipples
- MedGen UID: 98156
- Concept ID: C0432355
- Finding: Congenital Abnormality
Abnormality of the breast
- Hypoplastic nipples
- Abnormality of the integument
- Hypohidrosis
Hypohidrosis
- MedGen UID: 43796
- Concept ID: C0020620
- Finding: Disease or Syndrome
Abnormality of the integument
- Nail dysplasia
Nail dysplasia
- MedGen UID: 331737
- Concept ID: C1834405
- Finding: Congenital Abnormality
Abnormality of the integument
- Hypohidrosis
- Abnormality of the musculoskeletal system
- Camptodactyly
Camptodactyly
- MedGen UID: 195780
- Concept ID: C0685409
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Joint contracture of the hand
Joint contracture of the hand
- MedGen UID: 56382
- Concept ID: C0158113
- Finding: Finding
Abnormality of the musculoskeletal system
- Camptodactyly
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