growth Retarded growth [ more ] 0001510 Inguinal hernia 0000023 Preauricular skin tag 0000384 Prominent occiput Prominent back of the skull Prominent posterior skull [ more ] 0000269 Short nose Decreased length of nose Shortened nose [ more ] 0003196 [rarediseases.info.nih.gov]

[…] adult-onset ALS UBQLN2 Amyotrophy hereditary neuralgic SEPT9 Angelman syndrome chr. 15q11 Angelman syndrome UBE3A Angelman-like syndrome CDKL5 Angelman-like syndrome MECP2 Arts syndrome PRPS1 Asperger syndrome susceptibility X-linked type 2 NLGN3 Ataxia and muscle [centogene.com]

Abnormal findings included agenesis of the corpus callosum, a ventricular septal defect (VSD), postaxial polydactyly of fingers, cleft soft palate, intestinal malrotation, large anterior fontanelle, prominent forehead, hypertelorism, epicanthic folds, [ncbi.nlm.nih.gov]

Clinical description In ACS, craniofacial anomalies include macrocephaly with protruding forehead and occiput, hypertelorism, large anterior fontanel, short mandible and nose with anteverted nostrils and broad nasal bridge. [orpha.net]

Other features have also been described; minor craniofacial anomalies (prominent forehead, hypertelorism, short nose with anteverted nostrils, large anterior fontanelle), intracranial cysts and umbilical or inguinal hernia ( 3 ). [deepdyve.com]

nose and mandible and preauricular skin tags, mixed hearing loss, laryngomalacia, and growth and severe motor and mental retardation. [ncbi.nlm.nih.gov]

Other features have also been described; minor craniofacial anomalies (prominent forehead, hypertelorism, short nose with anteverted nostrils, large anterior fontanelle), intracranial cysts and umbilical or inguinal hernia ( 3 ). [deepdyve.com]

Minor craniofacial anomalies (prominent forehead, hypertelorism, short nose with anteverted nostrils and large anterior fontanels); Moderate to severe psychomotor retardation (with hypotonic); Polydactyl. [medigoo.com]

nose Decreased length of nose Shortened nose [ more ] 0003196 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Toe syndactyly Fused toes Webbed toes [ more ] 0001770 Triphalangeal thumb Finger-like thumb 0001199 Umbilical hernia [rarediseases.info.nih.gov]

Prominent occiput. Deep-set eyes. Scoliosis. Micropenis. Cryptorchidism. [medigoo.com]

occiput Prominent back of the skull Prominent posterior skull [ more ] 0000269 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Toe syndactyly Fused toes Webbed [rarediseases.info.nih.gov]

occiput hyperreflexia nystagmus cleft lip cleft palate supernumerary nipples rib hypoplasia prenatal overgrowth post natal growth deficiency anecephaly. [ispub.com]

The present report describes on a 1-year-old girl with macrocephaly, bulging forehead, ocular hypertelorism, antimongoloid palpebral slant, convergent strabismus, atrophy of optic papillae, short philtrum, protruding lips, high-arched palate, bifid uvula [ncbi.nlm.nih.gov]

We report on a nonconsanguineous, Norwegian couple with a history of two pregnancies with a male and a female fetus, respectively, with anencephaly, median cleft lip and palate, omphalocele, and preaxial polydactyly, suggesting the diagnosis of the acrocallosal [ncbi.nlm.nih.gov]

Syndrome UV sensitive syndrome Maternally inherited diabetes and deafness Facio thoraco genital syndrome Cryptophthalmos Meier-Gorlin syndrome Tyrosinemia type 3 Goodman syndrome Deafness-infertility syndrome Bartter syndrome type 3 3M syndrome Fetal akinesia [checkrare.com]