Overview A very rare inherited disorder characterized mainly by mental retardation, short stature and congenital hip dislocation. [checkorphan.org]

Clinical features include congenital bilateral hip luxation, short stature, and kyphosis. Mutations in the SHROOM4 gene, implicated in neural development, cause this disease. [genome.jp]

stature Decreased body height Small stature [ more ] 0004322 Small hand Disproportionately small hands 0200055 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 X-linked [rarediseases.info.nih.gov]

Seizure 0001250 Percent of people who have these symptoms is not available through HPO Absent speech Absent speech development Lack of language development Lack of speech No speech development No speech or language development Nonverbal [ more ] 0001344 Bruxism [rarediseases.info.nih.gov]

[…] head circumference [ more ] 0000252 Scoliosis Abnormal curving of the spine 0002650 Short foot Short feet Small feet [ more ] 0001773 Short stature Decreased body height Small stature [ more ] 0004322 Small hand Disproportionately small hands 0200055 Strabismus [rarediseases.info.nih.gov]

Amblyopia may occur secondary to poor compliance with treatment and secondary strabismus. Corrected visual acuity is infrequently better than 20/70 despite optimal management. [emedicine.medscape.com]

0005280 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Gastroesophageal reflux Acid reflux Acid reflux disease Heartburn [ more ] 0002020 Global developmental delay 0001263 Hip dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Hirsutism [rarediseases.info.nih.gov]

Overview A very rare inherited disorder characterized mainly by mental retardation, short stature and congenital hip dislocation. [checkorphan.org]

dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Hirsutism Excessive hairiness 0001007 Hyperactivity More active than typical 0000752 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Intellectual disability, profound IQ [rarediseases.info.nih.gov]

[…] body height Small stature [ more ] 0004322 Small hand Disproportionately small hands 0200055 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 X-linked inheritance 0001417 [rarediseases.info.nih.gov]

hand Disproportionately small hands 0200055 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 X-linked inheritance 0001417 Showing of 21 Last updated: 7/1/2019 Making [rarediseases.info.nih.gov]

[…] family with a condition (Santos syndrome (SS; MIM 613005)) characterized by fibular agenesis/hypoplasia, hypoplastic femora and grossly malformed/deformed clubfeet with severe oligodactyly, ungual hypoplasia/anonychia, sometimes associated with mild brachydactyly [ncbi.nlm.nih.gov]

Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B. Hum. Mol. Genet. 20, 271–285 (2011). 33. Al-Qattan, M. M. [nature.com]

Articles addres dysmorphology, syndromes in the infant, skeletal dysplasias, limb malformations, craniofacial anomolies, GI/liver disease, disorders of sexual develoment, brain defects, inborn errors of metabolism, and congenital heart disease. [books.google.com]

A new autosomal recessive skeletal dysplasia syndrome—prenatal diagnosis and histopathology. Prog. Clin. Biol. Res. 104, 519–524 (1982). 7. Pfeiffer, R. A., Stöss, H., Voight, H. J. & Wündisch, G. F. [nature.com]

Hirschsprung's disease with renal agenesis, polydactyly, hypertelorism, deafness, megacolon [medical-dictionary.thefreedictionary.com]

Home Diseases Santos Mateus Leal syndrome Title Other Names: Hirschsprung disease, deafness and polydactyly; Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness This table lists symptoms [rarediseases.info.nih.gov]

nasal root [ more ] 0005280 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Gastroesophageal reflux Acid reflux Acid reflux disease Heartburn [ more ] 0002020 Global developmental delay 0001263 Hip dislocation Dislocated hips Dislocation of [rarediseases.info.nih.gov]

nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Gastroesophageal reflux Acid [rarediseases.info.nih.gov]

kidney on one side Missing one kidney Single kidney [ more ] 0000122 Showing of 6 Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

Disease Name Stocco dos Santos X-linked mental retardation syndrome Supergrp Syndromic X-linked mental retardation [DS: H00658 ] Description Stocco dos Santos X-linked mental retardation syndrome is characterized by severe intellectual disability with hyperactivity [genome.jp]

[…] eye folds [ more ] 0000286 Gastroesophageal reflux Acid reflux Acid reflux disease Heartburn [ more ] 0002020 Global developmental delay 0001263 Hip dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Hirsutism Excessive hairiness 0001007 Hyperactivity [rarediseases.info.nih.gov]

Showing of 21 5%-29% of people have these symptoms Seizures Seizure 0001250 Percent of people who have these symptoms is not available through HPO Absent speech Absent speech development Lack of language development Lack of speech No speech development [rarediseases.info.nih.gov]

difficulties get into sport. [whoateallthepies.tv]

Apraxia affects her physical movement. [gofundme.com]