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Ptosis, hereditary congenital, 1(PTOS1)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Hereditary Congenital Ptosis
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked recessive inheritance
MedGen UID:
Concept ID:
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
Gene (location): ZFHX4 (8q21.13)
Monarch Initiative: MONDO:0008340
OMIM®: 178300
Orphanet: ORPHA91411


Hereditary congenital ptosis occurs in 3 main forms: simple; with external ophthalmoplegia; and with blepharophimosis. See PTOS2 (300245) for description of an X-linked form of congenital bilateral isolated ptosis. [from OMIM]

Clinical features

From HPO
Congenital ptosis
MedGen UID:
Concept ID:
Congenital Abnormality
The drooping of the upper or lower eyelid that is present at the time of birth.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPtosis, hereditary congenital, 1

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