Tunnused

Geeniga DYM seotud tunnused

dymeclin

Inimese fenotüübi ontoloogia seostab geeniga DYM 116 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Atlantoaxial instability	Alati
Barrel-shaped chest	Alati
Beaking of vertebral bodies	Alati
Excessive inward curvature of lower spine	Alati
Flaring of lower rib cage	Alati
Flattened vertebrae	Alati
Hunched back	Alati
Iliac crest serration	Alati
Limitation of joint mobility	Alati
Prominent sternum	Alati
Wide pubic symphysis	Alati
Disproportionate short-trunked short stature	Väga sageli (80–99%)
Pigeon chest	Väga sageli (80–99%)
Shield chest	Väga sageli (80–99%)
Spondyloepimetaphyseal dysplasia	Väga sageli (80–99%)
Abnormal development of end part of bone	Sageli (30–79%)
Abnormal shape of pelvis bone	Sageli (30–79%)
Abnormal skeletal development	Sageli (30–79%)
Abnormality of the hip bone	Sageli (30–79%)
Abnormality of the vertebral column	Sageli (30–79%)
Abnormality of the vertebral endplates	Sageli (30–79%)
Broad ribs	Sageli (30–79%)
Horizontal inferior border of scapula	Sageli (30–79%)
Hypoplasia of the odontoid process	Sageli (30–79%)
Hypoplastic iliac wing	Sageli (30–79%)
Scoliosis	Sageli (30–79%)
Short long bone	Sageli (30–79%)
Shorter than typical length between neck and abdomen	Sageli (30–79%)
Small wings of the pelvic girdle	Sageli (30–79%)
Decreased lung function due to weak breathing muscles	Mõnikord (5–29%)
Difficulty in standing	Mõnikord (5–29%)
Frequent falls	Mõnikord (5–29%)
Glenoid fossa hypoplasia	Mõnikord (5–29%)
Spastic tetraparesis	Mõnikord (5–29%)
Enlargement of the costochondral junction	Pole registreeritud
Flat glenoid fossa	Pole registreeritud
Irregular end part of long bone	Pole registreeritud
Narrow greater sciatic notch	Pole registreeritud
Permanent flexion of the finger or toe	Pole registreeritud
Small shoulder blade	Pole registreeritud
Thoracic kyphosis	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Broad wide portion of long bone	Alati
Disproportionately short upper portion of limb	Alati
Irregular wide portion of a long bone	Alati
Outward bow-leggedness	Alati
Short fingers or toes	Alati
Short long bone of foot	Alati
Shortened long bone of hand	Alati
Small carpal bones	Alati
Knock knees	Väga sageli (80–99%)
Rhizomelic arm shortening	Väga sageli (80–99%)
Abnormal head of thigh bone	Sageli (30–79%)
Broad femoral neck	Sageli (30–79%)
Curvature of little finger	Sageli (30–79%)
Flat acetabular roof	Sageli (30–79%)
Hypoplastic acetabulae	Sageli (30–79%)
Limb muscle weakness	Sageli (30–79%)
Metaphyseal dysplasia	Sageli (30–79%)
Small innermost thighbone end part	Sageli (30–79%)
Abnormality of the ankle	Mõnikord (5–29%)
Bowed shankbone	Mõnikord (5–29%)
Bowed thighbone	Mõnikord (5–29%)
Club feet	Mõnikord (5–29%)
Coxa vara	Mõnikord (5–29%)
Dropped arches	Mõnikord (5–29%)
Limited elbow extension	Mõnikord (5–29%)
Limited knee straightening	Mõnikord (5–29%)
Prominent heel bone	Mõnikord (5–29%)
Wide wrist bones	Mõnikord (5–29%)
Broad foot	Pole registreeritud
Broad palm	Pole registreeritud
Cone-shaped end part of finger bones	Pole registreeritud
Delayed maturation of the head of the thigh bone	Pole registreeritud
Multicentric femoral head ossification	Pole registreeritud
Multicentric ossification of proximal femoral epiphyses	Pole registreeritud
Multicentric ossification of proximal humeral epiphyses	Pole registreeritud
Short finger bones	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Coarse facial features	Alati
Short neck	Alati
Abnormally small head	Sageli (30–79%)
Monobrow	Sageli (30–79%)
Smooth philtrum	Sageli (30–79%)
Thick eyebrow	Sageli (30–79%)
Thick oral frenulum	Sageli (30–79%)
Wide mouth	Sageli (30–79%)
Recurrent colds	Mõnikord (5–29%)
Big lower jaw	Pole registreeritud
Decreased size of facial bones	Pole registreeritud
Deformed sella turcica	Pole registreeritud
Increased thickness of skull cap	Pole registreeritud
Long, narrow head	Pole registreeritud

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Intellectual disability	Alati
Waddling gait	Alati
Abnormal gait	Sageli (30–79%)
Absent speech development	Sageli (30–79%)
Intellectual disability, severe	Sageli (30–79%)
Motor delay	Sageli (30–79%)
Delayed speech and language development	Mõnikord (5–29%)
Inability to walk	Mõnikord (5–29%)
Increased reflexes	Mõnikord (5–29%)
Intellectual disability, mild	Mõnikord (5–29%)
More active than typical	Mõnikord (5–29%)
Poor concentration	Mõnikord (5–29%)
Poor speech	Mõnikord (5–29%)
Severe global developmental delay	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Short stature	Alati
Faltering weight	Väga sageli (80–99%)
Severe short stature	Sageli (30–79%)
Growth delay as children	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Abdominal bloating	Sageli (30–79%)
Rectum protrudes through anus	Sageli (30–79%)
Belly sticks out	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Hearing impairment	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Corneal opacity	Pole registreeritud

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Fine hair	Sageli (30–79%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Abnormal circulating enzyme concentration or activity	Pole registreeritud

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga DYM seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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