Acrofacial dysostosis, Catania type

Also known as: Opitz-Caltabiano syndrome

Definition

Orphanet

Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis (see this term) characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males.

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Symptoms

Medical Term Other Names Description
Cleft palate Cleft of hard and soft palate, Palatoschisis, Uranostaphyloschisis [more] 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).
Inguinal hernia Protrusion of the contents of the abdominal cavity through the inguinal canal.
Hypospadias Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Brachydactyly Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Mandibulofacial dysostosis Treacher collins syndrome A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations.
Mild intrauterine growth retardation Mild prenatal growth deficiency Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age.
Short stature Decreased body height, Height less than 3rd percentile, Small stature, Stature below 3rd percentile [more] A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Carious teeth Tooth decay, Rotting teeth, Dental decay, Caries, Dental cavities, Frequent caries, Dental caries, Early dental caries, Cariosity of teeth, Tooth cavities [more] Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
Growth delay Growth deficiency, Delayed growth, Growth retardation, Growth failure, Retarded growth, Very poor growth [more] A deficiency or slowing down of growth pre- and postnatally.
Hernia
Intrauterine growth retardation In utero growth retardation, Intrauterine retardation, Intrauterine growth restriction, Prenatal growth deficiency, Small for gestational age infant, Prenatal-onset growth retardation, Prenatal growth retardation, IUGR, Intrauterine growth retardation, IUGR, Prenatal growth failure, Intrauterine growth failure [more] An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Widow's peak Hairline peak, Hairline point, V-shaped frontal hairline [more] Frontal hairline with bilateral arcs to a low point in the midline of the forehead.
Cryptorchidism Undescended testes, Undescended testis, Cryptorchism [more] Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
Single transverse palmar crease Single flexion crease, Transverse palmar crease, Simian line, Single palmar crease, Simian creases [more] The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
Microcephaly small cranium, Decreased circumference of cranium, Small head, Small skull, Small head circumference, Reduced head circumference, Decreased size of cranium, Decreased size of skull, Abnormally small skull, Decreased size of head, Abnormally small cranium, small calvarium, Abnormally small head [more] Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.

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