Focal facial dermal dysplasia type III(FFDD3)

MedGen UID:: 315643
•Concept ID:: C1744559
•: Disease or Syndrome

Synonyms:	Bitemporal forceps marks syndrome; FFDD type 2; Focal facial dermal dysplasia 3; Focal facial dermal dysplasia 3, Setleis type; FOCAL FACIAL DERMAL DYSPLASIA, TYPE II; Setleis syndrome
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 dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • 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. Autosomal recessive inheritance (Orphanet) Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	TWIST2 (2q37.3)

Monarch Initiative:	MONDO:0009203
OMIM®:	227260
Orphanet:	ORPHA1807

Definition

The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin (summary by Slavotinek et al., 2013). FFDD2 (614973) is characterized by the same facial features as FFDD3, but the inheritance is autosomal dominant. For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (136500). [from OMIM]

Clinical features

From HPO

Imperforate anus

MedGen UID:: 1997
•Concept ID:: C0003466
•: Congenital Abnormality

Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.

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Bulbous nose

MedGen UID:: 66013
•Concept ID:: C0240543
•: Finding

Increased volume and globular shape of the anteroinferior aspect of the nose.

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Epicanthus

MedGen UID:: 151862
•Concept ID:: C0678230
•: Congenital Abnormality

Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).

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Depressed nasal bridge

MedGen UID:: 373112
•Concept ID:: C1836542
•: Finding

Posterior positioning of the nasal root in relation to the overall facial profile for age.

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Low anterior hairline

MedGen UID:: 331280
•Concept ID:: C1842366
•: Finding

Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.

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Thick upper lip vermilion

MedGen UID:: 339521
•Concept ID:: C1846423
•: Finding

Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective).

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Chin with horizontal crease