facial features, widely spaced eyes, a short nose with anteverted nares, gingival overgrowth, a wide mouth, short limbs with short distal phalanges, and a small penis. [zora.uzh.ch]

The boy had distinctive coarse facial features, widely spaced eyes (ocular hypertelorism), a large tongue (macroglossia), abnormal ears and abnormalities affecting the roof of the mouth (the palate). [abstracts.eurospe.org]

The main features pointing towards the diagnosis were macrosomia, coarse facial features and macroglossia with a midline groove in the tongue. Proband B developed a Wilms tumour. He was found to have a novel mutation causing a premature stop codon. [samj.org.za]

Simpson-Golabi-Behmel (SGB) syndrome is an X-linked recessive genetic disorder characterized by prenatal and postnatal overgrowth, coarse facial features, polydactyly and an increased risk of embryonal tumors. [ashg.org]

Female carriers are usually asymptomatic, but some are noted to have mild features detected following detailed clinical assessment after diagnosis in a male relative. [nature.com]

Carrier females are often asymptomatic, though females may also exhibit features of SGBS1. Genetic testing of GPC3 may confirm a diagnosis and help guide treatment and management decisions. [invitae.com]

Evaluation of relatives at-risk: It is appropriate to clarify the genetic status of apparently asymptomatic older and younger at-risk relatives of an affected individual by molecular genetic testing of the GPC3 or GCP4 pathogenic variant in the family [ncbi.nlm.nih.gov]

[…] disability-spasticity-ectrodactyly syndrome Intellectual disability-strabismus syndrome Intermediate DEND syndrome Intermediate nemaline myopathy Intermediate severe Salla disease Internal carotid agenesis Isolated Dandy-Walker malformation Isolated anencephaly/exencephaly Isolated asymptomatic [se-atlas.de]

Note: (1) CMA cannot determine the location or orientation of a duplication. (2) If a deletion or duplication is of sufficient size, fluorescence in situ hybridization ( FISH ) can be used to test parental samples for inheritance of the deletion or duplication [ncbi.nlm.nih.gov]

X-linked syndromic 7 Microcephaly micropenis convulsions Craniorachischisis Verloes Bourguignon syndrome Spondyloepimetaphyseal dysplasia Strudwick type Hyperprolinemia type 2 Ethylmalonic encephalopathy Bilateral perisylvian polymicrogyria Oguchi disease Fish-eye [checkrare.com]

gain, formation of tumors in the abdomen, enlarged organs (liver, spleen, kidneys), cardiac problems, low muscle tone, speech impediment, intellectual impairment, and attention deficit hyperactivity disorder (ADHD) Some females with a single copy of [dovemed.com]

great toes, overlapping second and third toes pCME3(Belgium) / / Pre- and postnatal overgrowth, macrocephaly, macrostomia, mild mental retardation OG004(The Netherlands) / / Elevated birth weight, postnatal overgrowth, malposition of toes, hypogonadism [doi.org]

The infantile lethal form of SGBS is sometimes known as SGBS type 2. [1] [2] People with SGBS typically have distinctive facial features, including a large distance between the eyes ( hypertelorism ), an unusually wide mouth ( macrostomia ) with a large [rarediseases.info.nih.gov]

midline groove in tongue, vertebral anomalies, intestinal malrotation pCME2(Belgium) / / Prematurely born (37 weeks –birth weight and length at P97), postnatal overgrowth, omphalocoele, hypogonadism, macrostomia, broad great toes, overlapping second [doi.org]

Note short noses, macrostomia, and prominent jaws (left case 1, right case 2). (Photographs reproduced with permission.) Figure 2 The patients’ hands. Note short fingers and short broad thumbs. [jmg.bmj.com]

Simpson Golabi Behmel Syndrome (SGBS) is an X-linked overgrowth syndrome with coarse craniofacial features that include hypertelorism, epicanthal folds, macrostomia, macroglossia, and antiverted nares. [oxfordmedicine.com]

Major clinical findings include early onset intractable epileptic encephalopathy with a burst-suppression pattern on EEG, generalized muscular hypotonia, structural brain abnormalities, macrocephaly and increased birth weight, joint contractures, coarse [zora.uzh.ch]

Neurologic manifestations are perhaps the most varied findings. Hypotonia and absent primitive reflexes, a high-pitched cry in neonates, seizures, and abnormal EEG have all been described. [ncbi.nlm.nih.gov]

Annual (or as indicated) ophthalmologic and audiologic evaluations in childhood; sleep study if there are concerns about sleep disturbance or sleep apnea; routine monitoring of renal function if renal anomalies are present; evaluation for scoliosis at [ncbi.nlm.nih.gov]

[…] supernumerary nipple, advanced bone age, broad great toes, fourth toes overlapping the third toes AG0817 d (ECACC) Exon-3 missense(T1076A) / Pre- and postnatal overgrowth, characteristic facial features, bilateral accessory nipples, extra vertebrae, neonatal meningitis [doi.org]