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Klippel-Feil Syndrome
The short neck and its immobility and instability present a significant challenge for endotracheal intubation.[ncbi.nlm.nih.gov]
The Klippel-Feil deformity is a complex of osseous and visceral anomalies, which include low hairline, platybasia, fused cervical vertebrae with a short neck, and deafness[ncbi.nlm.nih.gov]
The clinical triad consists of short neck, low posterior hairline and limited neck movement. Multiple congenital anomalies have been associated with this disease.[ncbi.nlm.nih.gov]
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Atelosteogenesis
[…] femur ; Short humerus ; Short metacarpal ; Short metatarsal ; Short neck ; Short nose ; Sporadic ; Stillbirth ; Talipes equinovarus ; Thoracic platyspondyly ; Tibial bowing[mousephenotype.org]
[…] middle phalanx of finger Short middle bone of finger 0005819 Short neck Decreased length of neck 0000470 Short sacroiliac notch 0003185 Stillbirth Stillborn 0003826 Talipes[rarediseases.info.nih.gov]
Affiliated tissues include bone , testes and eye , and related phenotypes are malar flattening and short neck OMIM : 57 Atelosteogenesis is the name given by Maroteaux et[malacards.org]
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Schinzel-Giedion Syndrome
, and a short neck.[semanticscholar.org]
[…] and sclerotic skull base, short neck, and post-axial polydactyly.[ncbi.nlm.nih.gov]
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[semanticscholar.org]
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Cold-Induced Sweating Syndrome 1
[…] facial appearance (see photos at bottom of page), as follows: Facial characteristics Rounded face in infancy Anteverted nares (upturned nose) Low-set ears Puckered chin Short[forgottendiseases.org]
neck Pursed lips (see photos); may resolve with time Blepharospasm (sustained, forced closing of the eyelids) Flat or depressed nasal bridge Highly arched palate Long philtrum[forgottendiseases.org]
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Jacobsen Syndrome
Anesthetic issues related to the care of patients with JS concern airway management secondary to short neck, abnormal mouth shape and micrognathia/retrognathia, a high incidence[ncbi.nlm.nih.gov]
A woman with psychomotor developmental delay, congenital glaucoma, and distinctive facial features, and a short neck was diagnosed with Jacobsen syndrome (JBS) at age 40 years[ncbi.nlm.nih.gov]
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Chromosome 16q22 Deletion Syndrome
Clinical features Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Blepharophimosis Epicanthus Frontal bossing High forehead High palate Hypertelorism[familydiagnosis.com]
neck.[malacards.org]
Hypoplastic mandible condyle Short palpebral fissure Upslanted palpebral fissure Wide anterior fontanel Wormian bones Abnormality of the abdomen Poor suck Abnormality of[familydiagnosis.com]
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Schwartz-Jampel Syndrome
The syndrome also induces various skeletal irregularities, such as micrognathia, pectus carinatum, kyphosis, coxa valga, short femoral bones and a short neck.[symptoma.com]
The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature[advbiores.net]
neck ; Short stature ; Shoulder flexion contracture ; Skeletal muscle atrophy ; Skeletal muscle hypertrophy ; Talipes equinovarus ; Umbilical hernia ; Weak voice ; Wrist[mousephenotype.org]
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Spondylocarpotarsal Synostosis
neck ; Short nose ; Talipes equinovarus ; Tarsal synostosis Associated Genes FLNB (Withdrawn symbols: ABP-278, FH1, FLN1L, LRS1, TABP, TAP ) Mouse Orthologs Flnb (Withdrawn[mousephenotype.org]
Affiliated tissues include bone , eye and lung , and related phenotypes are hypertelorism and short neck UniProtKB/Swiss-Prot : 75 Spondylocarpotarsal synostosis syndrome:[malacards.org]
Note the short stature, short trunk and neck, scoliosis, knee pterygium and neck webbing.[nature.com]
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Pseudohypoparathyroidism Type 1A
Her physical examination noted a stocky physique, broad chest, short neck and short digits.[ncbi.nlm.nih.gov]
Short stature with a short neck, a round face, chubby cheeks, and a depressed nasal bridge are usually present.[disorders.eyes.arizona.edu]
The patient had a singular phenotype ( Fig. 1 ) with a rounded face, short neck, and shortening of the first toe in both feet as well as of the fourth metacarpal and metatarsal[analesdepediatria.org]
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Cerebro-Facio-Thoracic Dysplasia
[…] findings are mental retardation, characteristic facies, narrow forehead, bushy eyebrows with synophrys, hypertelorism, broad nose, wide philtrum, triangular-shaped mouth, short[ncbi.nlm.nih.gov]
neck, and multiple costal and vertebral anomalies.[unboundmedicine.com]
He also showed dysmorphic features:hypertelorism, broad short nose, synophrys, narrowforehead, large low-set ears, flat facies, short neck withlow hair line, flat occiput,[docslide.com.br]