Short Neck: Causes & Reasons

Possible Causes for Short Neck

Klippel-Feil syndrome type II is massive fusion of two of seven cervical vertebrae associated with short neck and low hair line. [ncbi.nlm.nih.gov]

She had blue sclera and short neck (figure 1), right hypoglossal palsy, bilateral pyramidal tract signs, and gaze-evoked nystagmus. [n.neurology.org]

Schwartz-Jampel Syndrome

neck ; Short stature ; Shoulder flexion contracture ; Skeletal muscle atrophy ; Skeletal muscle hypertrophy ; Talipes equinovarus ; Umbilical hernia ; Weak voice ; Wrist [mousephenotype.org]

A, shows typical facial features with fixed facial expression, thick eye brows, blepharospasm, long philtrum, pursed lips, inability to open mouth, and short neck. [jpeds.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]

Spondyloepiphyseal Dysplasia Congenita

We report a twelve year old child who presented with polyarthritis of knee and ankle joints, developmental delay, syndromic facies, short neck, pectus carinatum, hypertrichosis [valleyinternational.net]

We present a case of SED congenita with short stature since birth, flat midface, short neck, barrel chest with pectus carinatum, lumbar lordosis, myopia without retinal detachment [ncbi.nlm.nih.gov]

[…] barrel-shaped thorax, a short neck, and mild ocular hypertelorism. [ncbi.nlm.nih.gov]

Mucopolysaccharidosis Type 4

On examination, the child had a short stature with dolichocephaly, short neck, kyphosis at thoraco-lumbar region, pectum excavatum with prominent costal margins, genu valgum [jnaccjournal.org]

neck It results from an excess of keratan sulphate from a deficit in its degradation pathway. [radiopaedia.org]

The defects are present at birth and include severe deformity of the spine and chest, short neck, loose and enlarged joints, and irregular ends of the long bones. [medicinenet.com]

Turner Syndrome

A 16-year-old girl was referred to our hospital with chief complaint of short stature. She presented with round chubby facies, short neck, obesity and short stature. [ncbi.nlm.nih.gov]

The patient showed the typical phenotype of Turner syndrome including distinctive dysmorphic features (short neck, low posterior hairline, wide position of nipples), aortic [ncbi.nlm.nih.gov]

neck (58.6%), hypertelorism of nipples (51.4%), malformations of the cardiovascular (19.6%) and urinary systems (13.8%) and pathology related to vision (20.1%) and hearing [ncbi.nlm.nih.gov]

Noonan Syndrome

Patients with Noonan syndrome also have a characteristic appearance: short neck, cervical skin fold, low set ears, hypertelorism. [asperbio.com]

Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism [uniprot.org]

Noonan syndrome is an autosomal, dominantly inherited disease; it is physically characterized by short stature, short neck, webbed neck, abnormal auricles, high arched palate [ncbi.nlm.nih.gov]

Mucopolysaccharidosis Type 2

Thick skin, short neck, widely spaced teeth, and hearing loss of varying degree are also commonly present. [rarediseases.org]

Many have short necks, a protuberant abdomen, a broad chest, and facial coarseness. [disorders.eyes.arizona.edu]

Affected children may also have an abnormally large head (macrocephaly), a short neck and broad chest, delayed tooth eruption, progressive hearing loss, enlargement of the [rarediseases.org]

Dyggve-Melchior-Clausen Syndrome

Head And Neck Neck: short neck Skeletal Limbs: genu valgum hypoplastic distal ulna narrow joint spaces Skeletal Pelvis: coxa vara short femoral neck irregular iliac crest [malacards.org]

The neck is short. [accessanesthesiology.mhmedical.com]

[…] metacarpals cone-shaped epiphyses small carpals Growth Height: short stature, disproportionate (short trunk) Chest Ribs Sternum Clavicles And Scapulae: sternal protrusion [malacards.org]

Baraitser-Winter Syndrome

neck. [ajol.info]

[…] stature, short neck, hyperextensibility of the joints of the hands, talipes equinovarus, kyphoscoliosis and unilateral hypoplastic scrotum and testis. [ajol.info]

In addition, the phenotype includes dwarfism with short neck and heart malformations. [pediatricneurosciences.com]

Klippel-Feil Syndrome

Short neck, low posterior hairline, and limited range of neck motion. Remainder of examination unremarkable. No Sprengel deformity or scoliosis noted. [contemporarypediatrics.com]

This condition leads to a characteristic appearance of a short neck, low hairline, facial asymmetry, and limited neck mobility. [physio-pedia.com]

Features include a short neck, restricted mobility of the upper spine and a low hairline. [patient.info]

Schneckenbecken Dysplasia

The condition may cause cleft palate, short neck, short stature, unusual shape of iliac bones and other bone abnormalities. [xpertdox.com]

Overview A very rare genetic disorder involving defective bone and cartilage development which causes cleft palate, short neck, short stature, unusual iliac shape and other [checkorphan.org]

[from OMIM] Show allHide all Abnormality of head or neck Cleft palate Midface retrusion Short neck Short nose Abnormality of limbs Advanced ossification of carpal bones Bilateral [ncbi.nlm.nih.gov]

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]

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]

neck, and multiple costal and vertebral anomalies. [unboundmedicine.com]

Spondyloepiphyseal Dysplasia Type Cantú

Symptoms via clinical synopsis from OMIM: 57 Head And Neck Neck: short neck wide neck Head And Neck Nose: depressed nasal bridge broad nasal bridge upturned nose Skeletal [malacards.org]

[…] long bone Long bone shortening 0003026 Short neck Decreased length of neck 0000470 Short thorax Shorter than typical length between neck and abdomen 0010306 Thick eyebrow [rarediseases.info.nih.gov]

Affected individuals may also have a disproportionately short neck. The head, hands and feet are average-sized. [rarediseases.org]

Kniest Dysplasia

Manifestations included neonatal respiratory distress, large head, midface hypoplasia, flat nasal bridge, short nose, micrognathia, cleft palate, short neck, micromelia, and [ncbi.nlm.nih.gov]

Note short-limbed dysplasia, relative macrocephaly, and short neck. [emedicine.medscape.com]

Roentgenologic findings included short, slightly bowed tubular bones with metaphyseal flare; mild platyspondyly, with vertical clefts of vertebral bodies; small iliac bones [ncbi.nlm.nih.gov]

Trisomy 12p

neck; short sternum; “spade”-shaped fingers, the fifth being short; bilateral genu valgum; bilateral pes planus and talus valgus; increased space between the first and second [onlinelibrary.wiley.com]

neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Thick eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent [rarediseases.info.nih.gov]

[…] lip, bifid uvula, micrognathia, and short neck are seen. [synapse.koreamed.org]

Mucopolysaccharidosis Type 4A

This child also presented with most of the features such as short stature, pectus carinatum, short neck, knock knees, kyphosis, projecting jaw, broad mouth, and flat feet [cjhr.org]

Clinical features include short trunk dwarfism, dysostosis multiplex, progressive spinal deformity, short neck, pectus carinatum, genu valgum, pes planus, and odontoid hypoplasia [icd10data.com]

Airway evaluation: abnormal neck anatomy, short neck with limited mobility, hyromental and thyromentonian distance less than 6 cm, severely limited jaw protrusion, mouth opening [omicsonline.org]

Partial Monosomy 18q

neck. [jisppd.com]

neck (3%) Severe feeding problems (3%) Age of onset, natural history, life span [ edit ] Symptoms are apparent from birth in most cases Natural history: Most patients have [en.wikibooks.org]

Newborns have multiple defects – micrognathia, short neck, congenital heart defects and renal malformations. The children look weak and fragile. [wikilectures.eu]

Pseudohypoparathyroidism Type 1A

Her physical examination noted a stocky physique, broad chest, short neck and short digits. [ncbi.nlm.nih.gov]

neck Short hand bones, especially the bone below the 4th finger Short height Your health care provider will recommend calcium and vitamin D supplements to maintain a proper [medlineplus.gov]

Short stature with a short neck, a round face, chubby cheeks, and a depressed nasal bridge are usually present. [disorders.eyes.arizona.edu]

Spondylometaphyseal Dysplasia Type Kozlowski

Affiliated tissues include bone, and related phenotypes are low-set ears and short neck [malacards.org]

[…] femoral neck ; Short stature ; Spondylometaphyseal dysplasia ; Waddling gait Associated Genes FN1 (Withdrawn symbols: CIG, FINC, GFND2, LETS, MSF ) Mouse Orthologs Fn1 (Withdrawn [mousephenotype.org]

Soon after birth he had lowhairline, mild hypertelorism, short neck, frontal bossing, retrognathia, broad hands, and short limbs. [cags.org.ae]

Atelosteogenesis

Affected patients also have rhizomelic limb shortening, similar facial features, short necks and cervical spine segmentation defects. [ctgt.net]

[…] middle phalanx of finger ; Short neck ; Short sacroiliac notch ; Stillbirth ; Talipes equinovarus ; Thoracic hypoplasia Associated Genes SLC26A2 (Withdrawn symbols: DTD, [mousephenotype.org]

[…] femur ; Short humerus ; Short metacarpal ; Short metatarsal ; Short neck ; Short nose ; Sporadic ; Stillbirth ; Talipes equinovarus ; Thoracic platyspondyly ; Tibial bowing [mousephenotype.org]

Pallister-Killian Syndrome

Here, we report on an unusual case of i(12p) in a 15-year-old boy presenting with mild mental retardation, minor facial features (long face, prognathism, short neck), normal [ncbi.nlm.nih.gov]

Anatomic malformation such as extremity deformities, short neck, frontal bossing, cardiac and renal pathologies are hallmark of clinical presentation in PKS. [dergipark.org.tr]

The neck was short with increased posterior neck skin and webbing. [latunisiemedicale.com]

Mucopolysaccharidosis Type 1 H

Head and neck findings included short neck with limited movement, macrocephaly, coarse facial features, depressed nasal bridge [Figure 1] with copious oral secretions and [joacp.org]

Others: Other features may include short neck, subluxation of vertebral bodies, thick and coarse body hair and thickened skin. [symptoma.com]

Hurler patients have a short neck and odontoid hypoplasia (decreased ossification of the odontoid bone which is the anterior process of the second vertebra). [themedicalbiochemistrypage.org]

Freeman-Sheldon Syndrome

Other associated less specific abnormalities are short broad neck, kyphoscoliosis. Most of the features are due to increased muscle tone. [ncbi.nlm.nih.gov]

[…] webbed neck associated with difficult intubation. [ncbi.nlm.nih.gov]

Persons with FSS may also have a short neck that doesn't move well and has extra skin giving a 'webbed' appearance. [fsrgroup.org]

Costello Syndrome

Of primary concern to anaesthesiologists are potential airway difficulties related a short neck, macroglossia, hypertrophied tonsillar and supraglottic tissues, laryngeal [ncbi.nlm.nih.gov]

His clinical findings were sparse, thin, and light-colored hair, bilateral ptosis, low-set ears, depressed nasal bridge, bulbous nose, short neck, loose pigmented skin with [ncbi.nlm.nih.gov]

neck), the skeleton (short stature with adult height between 118 and 148 cm, barrel chest, pectus excavatum/ carinatum, scoliosis, broad hands and feet, limited extension [accessanesthesiology.mhmedical.com]

Mucopolysaccharidosis

Initial physical examination revealed the presence of a coarse facies, short neck, kyphosis, restricted joint movements and deformities, and cardiac murmur besides a normal [ncbi.nlm.nih.gov]

Figure 1: shows Coarse facial features with depressed nasal bridge, a short neck, long philtrum. [omicsonline.org]

Examination and testing may reveal short stature (flat vertebrae cause a short trunk), short neck, kyphosis or scoliosis with pectus carinatum (pigeon chest) and, at the cervical [sajr.org.za]

Stuve-Wiedemann Syndrome

SWS patients have similar facial characteristics, including the following: Facial characteristics Low-set ears Squared jaw Small jaw Puckered chin Pursed lips Short neck Smooth [forgottendiseases.org]

Additional symptoms of SJS may include: A short stature Flattened facial features, narrow corners of the eyes, and a small lower jaw Joint deformities such as short neck, [verywell.com]

The affected baby had, in addition, agenesis of the corpus callosum and other non-specific dysmorphic features including microganthia, a short neck and low set ears. [cags.org.ae]

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 [jhu.pure.elsevier.com]

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]

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]

Note the short stature, short trunk and neck, scoliosis, knee pterygium and neck webbing. A detailed description of the phenotype of the patient is presented in Table 1. [nature.com]

neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more [rarediseases.info.nih.gov]

Trisomy 21

Children suffering from Down syndrome show certain features such as flat face, a short neck, slating eyes and small mouth. [imedpub.com]

Symptoms include short head,short neck,poor muscle tone, excessive flexibility etc. [longdom.org]

Some of the other common physical characteristics include a short neck, small hands and feet, small stature, and a lack of muscle tone. [everydayhealth.com]

Mucopolysaccharidosis Type 1

On examination, child had dysmorphic features such as frontal bossing, hypertelorism, saddle nose, low-set ears, macroglossia, short stature, short neck, kyphosis of lumbar [jcor.in]