Trăsături

Trăsături asociate cu MSX1

msh homeobox 1

Human Phenotype Ontology asociază 84 trăsături cu MSX1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

MSX1

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Absence of adult teeth	Întotdeauna
Failure of development of more than six teeth	Întotdeauna
Abnormal dentition	Foarte des (80–99%)
Abnormality of dental shape	Foarte des (80–99%)
Abnormality of tooth eruption	Foarte des (80–99%)
Chewing difficulties	Foarte des (80–99%)
Cone shaped tooth	Foarte des (80–99%)
Delayed eruption of teeth	Foarte des (80–99%)
Failure of development of between one and six teeth	Foarte des (80–99%)
Lip pit	Foarte des (80–99%)
Abnormal of nasal shape	Des (30–79%)
Abnormality of masticatory muscle	Des (30–79%)
Abnormality of the face	Des (30–79%)
Absence of premolar	Des (30–79%)
Absence of six year molar	Des (30–79%)
Absence of upper lateral incisor	Des (30–79%)
Absent central incisor	Des (30–79%)
Bad bite	Des (30–79%)
Cleft of the mouth	Des (30–79%)
Cleft palate	Des (30–79%)
Decreased length of dental roots	Des (30–79%)
Decreased size of tooth	Des (30–79%)
Delayed eruption of permanent teeth	Des (30–79%)
Disturbance of facial expression	Des (30–79%)
Drooping lower lip	Des (30–79%)
Non-midline cleft of the upper lip	Des (30–79%)
One sided cleft palate	Des (30–79%)
Velopharyngeal incompetence	Des (30–79%)
Widely spaced teeth	Des (30–79%)
Abnormal number of permanent teeth	Uneori (5–29%)
Abnormality of canine	Uneori (5–29%)
Abnormality of septum of nose	Uneori (5–29%)
Abnormality of shape of baby molar	Uneori (5–29%)
Absence of lower premolar	Uneori (5–29%)
Both sided cleft lip	Uneori (5–29%)
Decreased size of teeth	Uneori (5–29%)
Extra upper front tooth	Uneori (5–29%)
Hole in roof of mouth	Uneori (5–29%)
Increased size of tooth	Uneori (5–29%)
Missing lateral incisor	Uneori (5–29%)
Outward turned lips	Uneori (5–29%)
Peg-shaped maxillary lateral incisors	Uneori (5–29%)
Right and left cleft palate	Uneori (5–29%)
Short face	Uneori (5–29%)
Taurodontia	Uneori (5–29%)
Thin dental enamel	Uneori (5–29%)
Decreased size of maxilla	Rar (1–4%)
Absence of a tooth	Neînregistrat
Cleft upper lip	Neînregistrat
Decreased width of baby teeth	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Small fifth toenail	Întotdeauna
Spoon-shaped nails	Întotdeauna
Abnormal fingernails	Foarte des (80–99%)
Abnormality of the nail	Foarte des (80–99%)
Brittle nails	Foarte des (80–99%)
Ridged fingernail	Foarte des (80–99%)
Small fingernail	Foarte des (80–99%)
Thin toenail	Foarte des (80–99%)
Underdeveloped toenails	Foarte des (80–99%)
Fine hair	Des (30–79%)
Grooved nails	Neînregistrat
Nail pits	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties in infancy	Des (30–79%)
Oral-pharyngeal dysphagia	Des (30–79%)
Poor suck	Des (30–79%)
Malnutrition	Uneori (5–29%)
Poor swallowing	Uneori (5–29%)
Umbilical hernia	Rar (1–4%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Delayed speech and language development	Des (30–79%)
Speech articulation difficulties	Des (30–79%)
Behavioral abnormality	Uneori (5–29%)
Low self-esteem	Uneori (5–29%)
Specific learning disability	Rar (1–4%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Chronic infections of the middle ear	Des (30–79%)
Recurrent middle ear infection	Des (30–79%)
Abnormal Eustachian tube morphology	Uneori (5–29%)
Conductive deafness	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Club feet	Rar (1–4%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
High levels of amniotic fluid	Rar (1–4%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
All organs on wrong side of body	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Polycystic ovaries	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Abnormal pattern of respiration	Des (30–79%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Nasal speech	Des (30–79%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Small for gestational age	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu MSX1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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