stature Increased body height 0000098 Thick eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Umbilical hernia 0001537 Showing of 75 Last updated: 6/1/2019 While most of the literature available on [rarediseases.info.nih.gov]

Two frameshift mutations and a donor-splice one caused MSS, while two missense mutations in the DNA binding/dimerisation domain entailed an overgrowth syndrome with some clinical features resembling Sotos syndrome, accompanied by a marfanoid habitus, [ncbi.nlm.nih.gov]

However, the most striking feature in both patients was a marfanoid habitus, with long and slender morphotype, a very low BMI, long narrow face, and arachnodactyly. [nature.com]

These features prompted us to consider NFIX as a candidate gene for Marshall-Smith syndrome (MSS), a severe malformation syndrome characterized by failure to thrive, respiratory insufficiency, accelerated osseous maturation, kyphoscoliosis, osteopenia [ncbi.nlm.nih.gov]

Marshall-Smith syndrome is characterized by accelerated linear growth and skeletal maturation, typical facial features, psychomotor delay, and respiratory insufficiency. [ctgt.net]

It is hoped that the etiology of the syndrome will be discovered as more cases are recognized and reported by pediatricians caring for infants with failure to thrive, advanced bone age, and chronic respiratory symptomatology. [ncbi.nlm.nih.gov]

Aggressive treatment for failure to thrive has also allowed her to maintain a weight on the 50th centile. [doi.org]

MRSHSS Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome MRSHSS edit English Marshall–Smith syndrome syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, [wikidata.org]

Individuals may also have heart defects, an increased amount of body hair (hirsutism), and flat feet (pes planus). 0005616 Anteverted nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Bowing of the long bones [rarediseases.info.nih.gov]

Prognathia Eyes Hypermotropia Strabismus Nystagmus Astigmatism Musculo-skeletal abnormalities Pectus excavatum Scoliosis Advanced bone age Abdominal wall hypotonia Coxa valga Hand/foot abnormalities Long fingers Other abnormalities Malformed nails Premature eruption [ncbi.nlm.nih.gov]

[…] dysplasia and isolated cranial ossification defects group Cleidocranial dysplasiaAD1196006p21 RUNX2 Runt related transcription factor 2 CDAGS syndrome (craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, genital anomalies, skin eruption [onlinelibrary.wiley.com]

KEYWORDS: Advanced bone age; Aortic root dilatation; Marshall-Smith syndrome; Novel pathogenic variant; Precocious puberty [ncbi.nlm.nih.gov]

Abstract Marshall–Smith syndrome is characterized by overgrowth, advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features and variable mental retardation. [doi.org]

impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Generalized hirsutism Excessive hairiness over body 0002230 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Increased susceptibility to fractures Abnormal susceptibility [rarediseases.info.nih.gov]

sclerae, depressed nasal bridge, and micrognathia. [ncbi.nlm.nih.gov]

Clinical description The disorder associates several dysmorphic signs, including prominent forehead, bulging eyes, blue sclerae, anterversed nostrils and micrognathia. [orpha.net]

Definition A distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed [uniprot.org]

He always had typical facial features of MSS, with accelerated bone age, wide forehead, proptosis, blue sclerae, anteverted nares, ears with multiple folds, and underdeveloped midface. [nature.com]

sclerae Whites of eyes are a bluish-gray color 0000592 Bruising susceptibility Bruise easily Easy bruisability Easy bruising [ more ] 0000978 Conductive hearing impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Generalized hirsutism [rarediseases.info.nih.gov]

narrow face, or arachnodactyly. [ncbi.nlm.nih.gov]

Slow development of voluntary movements (psychomotor retardation) may also occur. Breathing (respiratory) difficulties commonly occur in patients with Marshall-Smith Syndrome. [rarediseases.org]

Pneumonia [ 4 ] Failure to thrive [ 4 ] Psychomotor retardation [ 4 ] Respiratory complications are often cause of death in early infancy. [ 2 ] Alternate names Translated English: Marshall-Smith syndrome Español: Síndrome de Marshall-Smith Français: [dictionnaire.sensagent.leparisien.fr]

Diagnosis Clinical course Respiratory difficulties (like upper airway obstruction. [6] (Note regarding clinical variability: respiratory difficulties might be absent. [3] ) Pneumonia [4] Failure to thrive [4] Psychomotor retardation [4] Respiratory complications [popflock.com]