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Lethal faciocardiomelic dysplasia

MedGen UID:: 384007
•Concept ID:: C1856891
•: Disease or Syndrome

Synonym:	Faciocardiomelic Dysplasia, Lethal
SNOMED CT:	Lethal faciocardiomelic dysplasia (719400000)
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)

Monarch Initiative:	MONDO:0009204
OMIM®:	227270
Orphanet:	ORPHA1972

Definition

Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome. It was described only once, in 1975, in 3 affected males in a sibship of 13, from second-cousin parents. Patients were all of low birth weight, had microretrognathia, microstomia, and microglossia, hypoplasia of the radius and ulna with radial deviation of the hands, simian creases and hypoplasia of fingers I and V, hypoplasia of the fibula and tibia with talipes and wide space between toes I and II, and severe malformation of the left heart which may have been responsible for death of all 3 in the first week or so of life. [from SNOMEDCT_US]

Clinical features

From HPO

Single transverse palmar crease

MedGen UID:: 96108
•Concept ID:: C0424731
•: Finding

The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.

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Short thumb

MedGen UID:: 98469
•Concept ID:: C0431890
•: Congenital Abnormality

Hypoplasia (congenital reduction in size) of the thumb.

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Radial deviation of the hand

MedGen UID:: 108280
•Concept ID:: C0575803
•: Finding

An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb).

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Hypoplasia of the radius

MedGen UID:: 672334
•Concept ID:: C0685381
•: Congenital Abnormality

Underdevelopment of the radius.

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Talipes

MedGen UID:: 220976
•Concept ID:: C1301937
•: Congenital Abnormality

A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.

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Fibular hypoplasia

MedGen UID:: 316909
•Concept ID:: C1832119
•: Finding

Underdevelopment of the fibula.

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Short 5th finger

MedGen UID:: 334269
•Concept ID:: C1842878
•: Congenital Abnormality

Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.

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Hypoplasia of the ulna

MedGen UID:: 395934
•Concept ID:: C1860614
•: Congenital Abnormality

Underdevelopment of the ulna.

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Abnormal cardiovascular system morphology

MedGen UID:: 892473
•Concept ID:: C4049796
•: Anatomical Abnormality

Any structural anomaly of the heart and blood vessels.

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Small for gestational age

MedGen UID:: 65920
•Concept ID:: C0235991
•: Finding

Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.

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Micrognathia

MedGen UID:: 44428
•Concept ID:: C0025990
•: Congenital Abnormality

Developmental hypoplasia of the mandible.

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Retrognathia

MedGen UID:: 19766
•Concept ID:: C0035353
•: Congenital Abnormality

An abnormality in which the mandible is mislocalised posteriorly.

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Microglossia

MedGen UID:: 10029
•Concept ID:: C0025988
•: Congenital Abnormality

Decreased length and width of the tongue.

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Narrow mouth

MedGen UID:: 44435
•Concept ID:: C0026034
•: Congenital Abnormality

Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).

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