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Facial palsy, congenital, with ptosis and velopharyngeal dysfunction(FPVEPD)

MedGen UID:
1623077
Concept ID:
C4540277
Disease or Syndrome
Synonyms: FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION; FPVEPD
 
Gene (location): TUBB6 (18p11.21)
 
Monarch Initiative: MONDO:0060589
OMIM®: 617732

Clinical features

From HPO
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Nasal regurgitation
MedGen UID:
488797
Concept ID:
C0232608
Sign or Symptom
Regurgitation of milk through the nose.
Brain imaging abnormality
MedGen UID:
751376
Concept ID:
C2711610
Finding
An anomaly of metabolism or structure of the brain identified by imaging.
Facial palsy
MedGen UID:
87660
Concept ID:
C0376175
Disease or Syndrome
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Hypernasal speech
MedGen UID:
99115
Concept ID:
C0454555
Finding
A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.
Velopharyngeal insufficiency
MedGen UID:
52992
Concept ID:
C0042454
Finding
Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).

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