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Blepharonasofacial malformation syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Pashayan syndrome
SNOMED CT: Blepharonasofacial malformation syndrome (717913006); Pashayan syndrome (717913006); Pashayan Prozansky syndrome (717913006)
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 dominant inheritance
MedGen UID:
Concept ID:
Source: Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
Monarch Initiative: MONDO:0007200
OMIM®: 110050
Orphanet: ORPHA1252


A rare otorhinolaryngological malformation syndrome with characteristics of a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability. Reported in 3 families to date. The facies has a mask-like appearance due to weakness of facial muscles and lacrimal duct obstruction is characteristic. Clinical features also include telecanthus, bulky nose, broad nasal bridge, sometimes a hypoplastic midface, longitudinal cheek furrows, trapezoidal upper lip and malformation of the ears. Intellectual disability, cutaneous syndactyly, torsion dystonia, increased deep tendon reflexes; Babinski sign, poor coordination and joint laxity are also observed. [from SNOMEDCT_US]

Clinical features

From HPO
Torsion dystonia
MedGen UID:
Concept ID:
Disease or Syndrome
Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.
Intellectual disability
MedGen UID:
Concept ID:
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Facial palsy
MedGen UID:
Concept ID:
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.
MedGen UID:
Concept ID:
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Mask-like facies
MedGen UID:
Concept ID:
A lack of facial expression often with staring eyes and a slightly open mouth.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBlepharonasofacial malformation syndrome
Follow this link to review classifications for Blepharonasofacial malformation syndrome in Orphanet.

Recent clinical studies


Verheij E, Thomeer HG, Pameijer FA, Topsakal V
Am J Med Genet A 2017 Jan;173(1):239-244. Epub 2016 Oct 14 doi: 10.1002/ajmg.a.37990. PMID: 27739185


Verheij E, Thomeer HG, Pameijer FA, Topsakal V
Am J Med Genet A 2017 Jan;173(1):239-244. Epub 2016 Oct 14 doi: 10.1002/ajmg.a.37990. PMID: 27739185
Sachdev M, Rastogi A, Singh A, Kumar K, Kapoor S, Bansal Y, Goel S
Ophthalmic Genet 2013 Mar-Jun;34(1-2):65-8. Epub 2012 Jun 14 doi: 10.3109/13816810.2012.695423. PMID: 22697357

Supplemental Content

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