Arthrogryposis, distal, type 2a

Preferred Label : Arthrogryposis, distal, type 2a;

Symbol : DA2A;

CISMeF acronym : DA2A; FSS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Whistling face-windmill vane hand syndrome; Craniocarpotarsal dysplasia; FSS; Freeman-sheldon syndrome; Craniocarpotarsal dystrophy;

Description : Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the embryonic skeletal muscle myosin heavy chain 3 gene (MYH3, 160720.0001);

Prefixed ID : #193700;

Details

Origin ID

193700;

UMLS CUI

C0265224;

Automatic exact mappings (from CISMeF team)
- Familial short stature [ICD-11 Sub-sub category]
- Fatigue Severity Scale [NCIt concept]
- Fentanyl Sublingual Spray [NCIt concept]
- Freeman-Sheldon syndrome [DO Concept]
- ICDC FSS Breeds [NCIt concept]
- distal arthrogryposis [DO Concept]
- distal arthrogryposis type 2A [DO Concept]
Currated CISMeF NLP mapping
- Freeman-Sheldon Syndrome [NCIt concept]
- Freeman-Sheldon syndrome [ICD-11 More detail]
- Freeman-Sheldon syndrome [MedDRA Preferred Term]
- Freeman-Sheldon syndrome [MeSH concept]
- Freeman-Sheldon syndrome [MeSH Supplementary Concept]
- Freeman-Sheldon syndrome [ORDO Disease]
- Freeman-Sheldon syndrome (disorder) [SNOMED CT concept]
- freeman-sheldon syndrome [SNOMED Notion]
DO Cross reference
- distal arthrogryposis [DO Concept]
- distal arthrogryposis type 2A [DO Concept]
Genes related to phenotype
- Myosin, heavy chain 3, skeletal muscle, embryonic [OMIM gene]
HPO term(s)
- Abnormal auditory evoked potentials [HPO term]
- Abnormal brainstem auditory evoked potentials, suggesting demyelination [HPO term]
- Abnormality of the skin [HPO term]
- Adducted thumb [HPO term]
- Arthralgia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Breech presentation [HPO term]
- Camptodactyly [HPO term]
- Cerebellar atrophy [HPO term]
- Chin with H-shaped crease [HPO term]
- Cryptorchidism [HPO term]
- Decreased fetal movement [HPO term]
- Deeply set eye [HPO term]
- Dental crowding [HPO term]
- Dimple chin [HPO term]
- Elbow flexion contracture [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flat face [HPO term]
- Flexion contracture of finger [HPO term]
- Flexion contracture of toe [HPO term]
- Full forehead [HPO term]
- Hearing impairment [HPO term]
- Hernia [HPO term]
- High palate [HPO term]
- Hip contracture [HPO term]
- Hip dislocation [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Joint contracture of the hand [HPO term]
- Joint dislocation [HPO term]
- Knee contractures [HPO term]
- Knee flexion contracture [HPO term]
- Kyphoscoliosis [HPO term]
- Long philtrum [HPO term]
- Malar flattening [HPO term]
- Malignant hyperthermia [HPO term]
- Mandibular prognathia [HPO term]
- Mask-like facies [HPO term]
- Microcephaly [HPO term]
- Motor delay [HPO term]
- Muscle weakness [HPO term]
- Narrow mouth [HPO term]
- Nasal speech [HPO term]
- Oligohydramnios [HPO term]
- Polyhydramnios [HPO term]
- Postnatal growth retardation [HPO term]
- Prominent chin with central dimple [HPO term]
- Prominent forehead [HPO term]
- Ptosis [HPO term]
- Pursed lips [HPO term]
- Recurrent fractures [HPO term]
- Recurrent respiratory infections [HPO term]
- Restricted neck movement due to contractures [HPO term]
- Rocker bottom foot [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Shoulder flexion contracture [HPO term]
- Small for gestational age [HPO term]
- Spina bifida occulta [HPO term]
- Strabismus [HPO term]
- Talipes equinovarus [HPO term]
- Telecanthus [HPO term]
- Ulnar deviation of the hand or of fingers of the hand [HPO term]
- Underdeveloped nasal alae [HPO term]
- Whistling appearance [HPO term]
- Wide nasal bridge [HPO term]
- Wrist flexion contracture [HPO term]
- contractures of the toes [HPO term]
ORDO concept(s)
- Freeman-Sheldon syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Freeman-Sheldon Syndrome [NCIt concept]
- Freeman-Sheldon syndrome [ORDO Disease]
- Freeman-Sheldon syndrome [MeSH Supplementary Concept]
- Freeman-Sheldon syndrome [MeSH concept]
- Freeman-Sheldon syndrome [MedDRA Preferred Term]
- Freeman-Sheldon syndrome [ICD-11 More detail]
- Freeman-Sheldon syndrome [DO Concept]
- Freeman-Sheldon syndrome (disorder) [SNOMED CT concept]
- freeman-sheldon syndrome [SNOMED Notion]

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