Swallowing difficulties Swallowing difficulty [ more ] 0002015 Ependymoma 0002888 Epileptic spasms 0011097 Gastrostomy tube feeding in infancy 0011471 Hepatoblastoma 0002884 Hypoplasia of the epiglottis 0005349 Hypospadias 0000047 Hypsarrhythmia 0002521 Inguinal [rarediseases.info.nih.gov]

Synopsis failure to thrive postnatal growth deficiency widely patent fontanels and sutures metopic suture extends to nasal root coarse facies high forehead, protruding forehead midface hypoplasia facial hemangioma low-set ears shallow orbits proptosis [humpath.com]

[…] to thrive in infancy Faltering weight in infancy Weight faltering in infancy [ more ] 0001531 Generalized hypertrichosis 0004554 Hydronephrosis 0000126 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Hypoplasia of the corpus callosum [rarediseases.info.nih.gov]

The orofacial features include coarse facies, frontal bossing, ocular hypertelorism, anterior open bite and macrodontia. [ncbi.nlm.nih.gov]

Other neurological problems can include severe feeding problems, seizures, or visual or hearing impairment. Affected individuals can also have abnormalities of organs such as the heart, kidneys, or genitals. [ghr.nlm.nih.gov]

Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption [ more ] 0000684 High palate Elevated palate Increased palatal height [ more ] 0000218 Hypoplastic pubic bone 0003173 Infantile sensorineural hearing [rarediseases.info.nih.gov]

Characteristic features include: midface retraction, widely patent fontanelles, hirsutism, choanal stenosis, hypospadias with chordae, club feet and broad ribs. [ncbi.nlm.nih.gov]

Hirsutism disappears and midface retraction becomes less evident with age; In contrast, bitemporal narrowing becomes more evident 3. [scielo.br]

She had bilateral hydronephrosis prenatally diagnosed, distinctive facial appearance, hirsutism, multiple skeletal abnormalities, and severe developmental delay. Brain MRI revealed ventriculomegaly and cortical dysplasia, and thin corpus callosum. [docksci.com]

At birth, they presented with coarse face, hypertelorism, and a deep groove under the eyes. Fontanelles and sutures were wide open. Genital abnormalities were present in 2 cases. [ncbi.nlm.nih.gov]

This syndrome is characterized by coarse facial features such as midfacial retraction, bulging forehead, short nose with anteverted nostrils, low-set malformed ears, protruding large tongue, and hypertelorism. [chikd.org]

Synopsis failure to thrive postnatal growth deficiency widely patent fontanels and sutures metopic suture extends to nasal root coarse facies high forehead, protruding forehead midface hypoplasia facial hemangioma low-set ears shallow orbits proptosis hypertelorism [humpath.com]

Postnatally, in keeping with a diagnosis of SGS, there were large fontanelles, ocular hypertelorism, a wide, broad forehead, midface retraction, a short, upturned nose, macroglossia, and a short neck. [ncbi.nlm.nih.gov]

neck atrial septal defect choanal stenosis hypoplastic first ribs broad ribs long clavicles short sternum hypoplastic nipples hypospadias short penis hypoplastic scrotum hypoplastic labia majora hypoplastic labia minora deep interlabial sulcus hymenal [humpath.com]

Midfacial retraction, frontal bossing, deep groove under the eyes, upturned nose, low-set ears, bilateral cryptorchidism, and generalized hypertrichosis were identified on admission. At the age of 7 months, epileptic spasms in series occurred. [ncbi.nlm.nih.gov]

[…] eruption of teeth, a narrow passage between the nose and throat (choanal stenosis), underdeveloped nipples, abnormal nails of the fingers and toes, extra fingers and/or toes, a clubfoot, a short penis, failure of the testicles to descent into the scrotum (cryptorchidism [rarediseases.org]

We report a male infant with Schinzel-Giedion syndrome, also showing the karyotypic abnormality 47,XXY. Agenesis of the corpus callosum and laryngeal stenosis were determined at autopsy. [ncbi.nlm.nih.gov]