Synonyms Postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation Overview No overview is available at this time. Please check back for future updates. For more information, visit GARD. [rarediseases.org]

SKOS:PREFLABEL C536724Zerres Rietschel Majewski syndrome SEMANTIC TYPE UMLS PROPERTY T047 Disease or Syndrome MESH FREQUENCY 0 HM D005145/Q000002 D006130 D008607 D008831 D013576 MDA 20100825 MMR 20131106 INVERSE OF RB 0 SC 3 SCOPE STATEMENT Postnatal short [labs.tib.eu]

Lorenz et al. [4], Scott et al. [5], and Zerres et al. [6] independently reported two distinct MCA/MR syndromes with microcephaly, syndactyly, and short stature. [hindawi.com]

Blepharophimosis with ptosis, syndactyly, and short stature 0 *Growth Disorders *Skin Abnormalities *Syndactyly *Blepharophimosis. Martinez Monasterio Pinheiro syndrome 0 *Cleft Lip *Cleft Palate *Hair Diseases *Syndactyly. [reference.md]

SON is required for genome stability by ensuring the efficiency of RNA splicing of weak constitutive and alternative splice sites. [amp.blog.shops-net.com]

To progress, one needs to identify the areas of one's weakness and to strengthen them. It is well said that "happy beginning is half done" and it fits perfectly with JCDR. [jcdr.net]

Specific PHGKB|Rare Diseases PHGKB|PHGKB Zerres Rietschel Majewski Syndrome Quick Links CDC National Center on Birth Defects and Developmental Disabilities NIH Genetic and Rare Diseases Information Center Disclaimer: Articles listed in the Public Health [phgkb.cdc.gov]

transverse palmar creases　(両側性単一手掌屈曲線)　[HP:0007598]　[180513] 　Broad columella　(幅広い鼻柱)　[HP:0010761]　[0744] 　Broad forehead　(幅広い額)　[HP:0000337]　[0501] 　Clinodactyly of the 5th toe　(第5趾弯趾)　[HP:0001864]　[15409] 　Delayed skeletal maturation　(骨成熟遅滞)　[HP:0002750 [syndromefinder.ncchd.go.jp]

Aretz S, Vasen HF, Olschwang S (2015) Clinical utility gene card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP) – update 2014. European Journal of Human Genetics 23. doi: 10.1038/ejhg.2014.193. [humangenetics.uni-bonn.de]

Low set ear are positioned below the horizontal lines as illustrated in B. Low-set ears are often posteriorly rotated reflecting in the normal anterior rotation that occurred during ear development. [pharmatutor.org]

Distinct facial features include facial asymmetry, low-set ears, midface retraction, frontal bossing, a depressed and or broad nasal bridge and a smooth or short philtrum. 1.3. [amp.blog.shops-net.com]

Children with ZTTK syndrome may present with vision problems including optic atrophy and cerebral visual impairment, resulting in poor visual responses. [amp.blog.shops-net.com]

impairment　(視力障害)　[HP:0000505]　[06011] (UR-DBMS) 【一般】*出生前および生後の成長遅延 (3パーセンタイル未満) 　*精神遅滞 (IQ = 30-60) 　けいれん 【神経】ジストニア性運動 【頭】*小頭 (3パーセンタイル未満) 【顔】幅広い多毛の額 　短い人中 　真っ直ぐな口 　薄い口唇 【眼】視力低下 　眼球後静脈瘤 　眼球突出 　視神経萎縮 【鼻】幅広い鼻梁 　目立つ鼻柱 　鼻翼低形成 【口】ジストニア性舌挺出 　小さな歯 　異常な形の歯 　 [syndromefinder.ncchd.go.jp]

Introduction Filippi syndrome is a rare disorder involving finger and toe abnormalities, a small head, characteristic face, and physical and mental retardation. [hindawi.com]

Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO [mseqdr.org]

Mid-face Hypoplasias:-Midface hypoplasia (blue region below) is essentially the same thing as maxillary bone region hypoplasia. Maxillary retrusion is another way of thinking about mid-face hypoplasia. [pharmatutor.org]

Distinct facial features include facial asymmetry, low-set ears, midface retraction, frontal bossing, a depressed and or broad nasal bridge and a smooth or short philtrum. 1.3. [amp.blog.shops-net.com]

Seizures often develop between the ages of 1 to 6 years old. 1.5. Signs and Symptoms Physiological Mutations of the SON gene can affect metabolism and mitochondrial function in newborns with ZTTK syndrome. [amp.blog.shops-net.com]

Noguchi, T Arinami, �Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18,� Neurology, vol. 63, no. 10, pp. 1803�1807, Nov. 2004. [88] M. Feucht, K. Fuchs, E. Pichlbauer, K. Hornik, J. Scharfetter, R. Goessler, T. [ijstr.org]

　[HP:0001792]　[1900] 　Spasticity　(痙縮)　[HP:0001257]　[0241] 　 　<5%-29%> 　Ambiguous genitalia　[性別不明の外性器]　[HP:0000062]　[1400] 　Finger syndactyly　(合指)　[HP:0006101]　[15407] 　Hypertrichosis　(多毛)　[HP:0000998]　[17112] 　Hypodontia　(減歯症)　[HP:0000668]　[08301] 　Seizures [syndromefinder.ncchd.go.jp]

Dennert N, Mathieu-Dramard M, Lacaze E, Plessis G, de Broca A, Jedraszak G, Röthlisberger B, Miny P, Filges I, Dufke A, Andrieux J*, Lee J*, Zink A* (2015) Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures [humangenetics.uni-bonn.de]

GAIT ATAXIA : Gait ataxia Gait Ataxia gait disorder, Neurologic find out more search to find out more about Scott Craniodigital Syndrome [34]. [pharmatutor.org]