Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting SHORT syndrome SIFRIM-HITZ-WEISS SYNDROME Simpson-Golabi-Behmel [rgd.mcw.edu]

Mild to moderate intellectual disability Delayed speech development Weak muscle tone Short stature Loose joints Distinct facial features: widely set eyes, downward-pointing outer corners of the eyes, broad eyebrows, high front hairline, broad nasal bridge [patientworthy.com]

Variables and measurements First, we determined which children had each of these phenotypes: male gender, developmental delay, low birth weight/intrauterine growth restriction, short stature, obesity, microcephaly, feeding difficulties, long face, facial [peerj.com]

Patients have mainly short stature due to haploinsufficiency of the IGF1R gene. 15q26.1 Deletion. Intractable epilepsy, ID and short stature. Chromosome 16 16p11.2 Deletion/Duplication. [scielo.br]

He has short stature and relatively mild intellectual disability with good language skills as an adult [1]. [ojrd.biomedcentral.com]

Parental FISH and/or aCGH should be offered to the parents when 15q24 deletion is detected in a child. [ojrd.biomedcentral.com]

A blood test known as FISH (fluorescence in situ hybridization) involves attaching fluorescent probes to the specific area of interest and is frequently used for testing family members of affected individuals. 15q24 deletion syndrome is caused by a small [my46.org]

FISH analysis in the mother of C45/06 using probes outside and within the deletion region did not show any evidence for inversions of 15q24 (data not shown). Table 1. [academic.oup.com]

It is not possible to size the deletion routinely by use of FISH. Table 1. [ncbi.nlm.nih.gov]

Parental aCGH and/or FISH studies are recommended to provide accurate genetic counseling and guidance regarding prognosis, recurrence risk, and reproductive options. [springermedizin.de]

Three of the four had a prenatal and postnatal growth deficiency, microcephaly, mild hypospadias, recurrent infections and loose connective tissue manifesting in joint laxity, scoliosis and inguinal hernia. [academic.oup.com]

atresia, imperforate anus, coloboma, dental problems and myelomeningocele. [peerj.com]

Major birth defects have been reported including, tetralogy of Fallot, myelomeningocele, intestinal atresia, and congenital diaphragmatic hernia (CDH). [ojrd.biomedcentral.com]

Congenital malformations, while rare, can be severe and include structural brain anomalies, cardiovascular malformations, congenital diaphragmatic hernia, intestinal atresia, imperforate anus, and myelomeningocele. [springermedizin.de]

lentis 1 autosomal dominant keratitis autosomal dominant limb-girdle muscular dystrophy autosomal dominant macrothrombocytopenia TUBB1-related autosomal dominant mental retardation 50 autosomal dominant mental retardation 55 autosomal dominant mental [rgd.mcw.edu]

Not tested Brain abnormalities by MRI Wide basal cisterna Dysplastic corpus callosum and transected pituitary stalk, hypoplasia of the adenohypophysis and ectopic neurohypophysis Not tested Not tested Hearing loss Moderate conductive hearing loss and tinnitus [academic.oup.com]

narrow face, high anterior hair line, floating forehead, broad medial eyebrows that taper laterally, hypertelorism, mildly downslanted palpebral fissures, high nasal bridge, broad nasal base with notched flaring alae nasi, long philtrum, full lower [academic.oup.com]

face, high anterior hair line, floating forehead, broad medial eyebrows that taper laterally, hypertelorism, mildly downslanted palpebral fissures, high nasal bridge, broad nasal base with notched flaring alae nasi, long philtrum, full lower lip, highly [academic.oup.com]

The eight phenotypes that showed discrepancies with the previous study (Magoulas & El-Hattab, 2012) were facial asymmetry, high anterior hairline, hypertelorism, broad nasal base, hypospadias, microphallus, thumb abnormalities, and clynodactyly, all of [peerj.com]

[…] thumbs long, slender fingers digital abnormalities, variable more Head And Neck Nose: depressed nasal bridge broad nasal bridge high nasal bridge flaring of nasal alae wide, short nose Genitourinary External Genitalia Male: cryptorchidism hypospadias microphallus [malacards.org]

Genital abnormalities are reported in a majority of individuals (60%) and include hypospadias, microphallus, and cryptorchidism. [ojrd.biomedcentral.com]

[…] facial dysmorphism, hearing loss, hypotonia, recurrent infection, and other congenital malformations including microcephaly, scoliosis, joint laxity, digital anomalies, as well as sometimes having autism spectrum disorder (ASD) and attention deficit hyperactivity [onlinelibrary.wiley.com]

Varying degrees of intellectual disability, typically in the range of mild to moderate in severity, have been reported in nearly all individuals, while behavior challenges such as aggression, hyperactivity, autistic behaviors, and attention deficit disorder [my46.org]

[…] basal cisterna Dysplastic corpus callosum and transected pituitary stalk, hypoplasia of the adenohypophysis and ectopic neurohypophysis Not tested Not tested Hearing loss Moderate conductive hearing loss and tinnitus Deaf in left ear Additional details Hyperactive [academic.oup.com]

[…] hypospadias microphallus Head And Neck Head: microcephaly high forehead Neurologic Central Nervous System: intellectual disability, mild hypotonia enlarged ventricles mental retardation seizures (rare) more Neurologic Behavioral Psychiatric Manifestations: hyperactivity [malacards.org]

Behavior abnormalities, such as autism, hyperactivity, aggression, and attention deficit disorder have been reported in 37% individuals with 15q24 deletion syndrome. [ojrd.biomedcentral.com]

[…] disability, constant smiling, characteristic facial features (high anterior hairline, broad medial eyebrows, epicanthal folds, hypertelorism, full lower lip and protuberant, posteriorly rotated ears), single palmar crease, toe syndactyly and congenital nystagmus [hal.inserm.fr]

[…] medial eyebrows that taper laterally, hypertelorism, long palpebral fissures, high nasal bridge, broad nasal base with flared alae nasi, long philtrum, full lower lip Eye abnormalities Micropthalmia with strabismus Strabismus, operated on at 10 years Nystagmus [academic.oup.com]

(0.28–0.58) Downslanting palpebral fissures 15 0.42 (0.25–0.58) MRI abnormalities 13 0.36 (0.19–0.53) Sparse broad medial eyebrows 15 0.42 (0.25–0.58) Recurrent infections 11 0.31 (0.17–0.44) Strabismus 10 0.28 (0.14–0.44) Hernias 5 0.14 (0.03–0.28) Nystagmus [peerj.com]

Other features that have been reported in a minority of cases include strabismus [1–3, 6, 10] nystagmus [1, 5, 8] and dental abnormalities [1]. [ojrd.biomedcentral.com]

[…] median maxillary central incisor Sorsby's fundus dystrophy spastic ataxia Spastic Diplegia Infantile Type Spastic Paraplegia, Ataxia, and Mental Retardation Spastic Paraplegia, Epilepsy, Mental Retardation SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS [rgd.mcw.edu]

seizures, often precipitated by sleep or fever - referred for epilepsy aged 13, hypotonia at birth, low-tone voice, edema of extremities Feeding difficulties as child, recurrent upper airway infections Very poor sleeper, recurrent chest infections and [academic.oup.com]