Blepharophimosis-intellectual disability syndrome, SBBYS type

Also known as: Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome, SBBYSS, Say-Barber-Biesecker-Young-Simpson syndrome

Definition

Orphanet

Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.

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Symptoms

Medical Term Other Names Description
Blepharophimosis Decreased width of palpebral fissure, Narrow opening between the eyelids A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Low-set ears Melotia, Lowset ears 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.
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.
Thin vermilion border Decreased volume of lip vermillion, Decreased volume of lip, Thin vermillion, Thin lips [more] Reduced width of the skin of vermilion border region of upper lip.
Generalized hypotonia Generalized muscular hypotonia, Decreased muscle tone, Low muscle tone, Hypotonia [more] Generalized muscular hypotonia (abnormally low muscle tone).
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.
Micrognathia Lower jaw hypoplasia, Mandibular deficiency, Retrusion of lower jaw, Hypoplastic mandible condyle, Small mandible, Decreased projection of lower jaw, Micrognathia of lower jaw, Mandibular retrognathia, Mandibular retrusion, Decreased size of lower jaw, Micromandible, Underdevelopment of lower jaw, Hypotrophic mandible, Hypotrophic lower jaw, Robin mandible, Little mandible, Underdevelopment of mandible, Small jaw, Decreased size of mandible, Hypoplastic mandible, Little lower jaw, Decreased projection of mandible, Mandibular micrognathia, Lower jaw retrognathia [more] Developmental hypoplasia of the mandible.
Abnormal heart morphology Congenital heart defects, Abnormally shaped heart, Cardiac anomalies, Abnormality of cardiac morphology, Abnormality of the heart [more] Any structural anomaly of the heart.
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.
Postaxial polydactyly Postaxial hexadactyly A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.
Abnormal facial shape Dysmorphic facial features, Facial Dysmorphism, Deformity of face, Distortion of face, Unusual facial appearance, Funny looking face, Dysmorphic facies, Unusual facies, Malformation of face, Abnormal morphology of the face, Distinctive facies [more] An abnormal morphology (form) of the face or its components.
Polydactyly A congenital anomaly characterized by the presence of supernumerary fingers or toes.
Hypothyroidism Low T4, Underactive thyroid Deficiency of thyroid hormone.
Bulbous nose Bulbous nasal tip, Potato nose Increased volume and globular shape of the anteroinferior aspect of the nose.
Congenital hypothyroidism A type of hypothyroidism with congenital onset.
Intellectual disability Nonprogressive intellectual disability, Poor school performance, Mental-retardation, Dull intelligence, Nonprogressive mental retardation, Mental deficiency, Mental retardation, nonspecific, Low intelligence [more] Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

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