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Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome(FND3)

MedGen UID:
462056
•Concept ID:
C3150706
•
Disease or Syndrome
Synonym: Frontonasal dysplasia 3
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): ALX1 (12q21.31)
 
Monarch Initiative: MONDO:0013271
OMIM®: 613456
Orphanet: ORPHA306542

Definition

Frontonasal dysplasia is a condition that results from abnormal development of the head and face before birth. People with frontonasal dysplasia have at least two of the following features: widely spaced eyes (ocular hypertelorism); a broad nose; a slit (cleft) in one or both sides of the nose; no nasal tip; a central cleft involving the nose, upper lip, or roof of the mouth (palate); incomplete formation of the front of the skull with skin covering the head where bone should be (anterior cranium bifidum occultum); or a widow's peak hairline.

Other features of frontonasal dysplasia can include additional facial malformations, absence or malformation of the tissue that connects the left and right halves of the brain (the corpus callosum), and intellectual disability.

Life expectancy of affected individuals depends on the severity of the malformations and whether or not surgical intervention can improve associated health problems, such as breathing and feeding problems caused by the facial clefts.

There are at least three types of frontonasal dysplasia that are distinguished by their genetic causes and their signs and symptoms. In addition to the features previously described, each type of frontonasal dysplasia is associated with other distinctive features. Individuals with frontonasal dysplasia type 1 typically have abnormalities of the nose, a long area between the nose and upper lip (philtrum), and droopy upper eyelids (ptosis). Individuals with frontonasal dysplasia type 2 can have hair loss (alopecia) and an enlarged opening in the two bones that make up much of the top and sides of the skull (enlarged parietal foramina). Males with this form of the condition often have genital abnormalities. Features of frontonasal dysplasia type 3 include eyes that are missing (anophthalmia) or very small (microphthalmia) and low-set ears that are rotated backward. Frontonasal dysplasia type 3 is typically associated with the most severe facial abnormalities, but the severity of the condition varies widely, even among individuals with the same type. [from MedlinePlus Genetics]

Clinical features

From HPO
Low-set ears
MedGen UID:
65980
•Concept ID:
C0239234
•
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
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Posteriorly rotated ears
MedGen UID:
96566
•Concept ID:
C0431478
•
Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
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Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
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.
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Brachycephaly
MedGen UID:
113165
•Concept ID:
C0221356
•
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
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Absent eyebrow
MedGen UID:
98133
•Concept ID:
C0431448
•
Congenital Abnormality
Absence of the eyebrow.
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Tessier cleft
MedGen UID:
146898
•Concept ID:
C0685787
•
Congenital Abnormality
A congenital malformation with a cleft (gap or opening) in the face.
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Underdeveloped nasal alae
MedGen UID:
322332
•Concept ID:
C1834055
•
Congenital Abnormality
Thinned, deficient, or excessively arched ala nasi.
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Wide nasal bridge
MedGen UID:
341441
•Concept ID:
C1849367
•
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
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Prominent glabella
MedGen UID:
349761
•Concept ID:
C1860247
•
Finding
Forward protrusion of the glabella.
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Upper eyelid coloboma
MedGen UID:
350283
•Concept ID:
C1863872
•
Disease or Syndrome
A short discontinuity of the margin of the upper eyelid.
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Cleft palate
MedGen UID:
756015
•Concept ID:
C2981150
•
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
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Sparse eyelashes
MedGen UID:
375151
•Concept ID:
C1843300
•
Finding
Decreased density/number of eyelashes.
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Hypertelorism
MedGen UID:
9373
•Concept ID:
C0020534
•
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
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Microphthalmia
MedGen UID:
10033
•Concept ID:
C0026010
•
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFrontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
Follow this link to review classifications for Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome in Orphanet.

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      OMIM records containing genes associated with phenotypes registered in MedGen
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