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]
It is marked by shortness and hyperextension of the neck causing the head to appear as if it were resting directly on the shoulders, short trunk, long extremities with excessive[icd9data.com]
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]
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]
Platybasia
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]
Figure 1 Face photograph (A) Blue sclera in osteogenesis imperfecta and (B) short neck.[n.neurology.org]
She had blue sclera and short neck ( figure 1 ), right hypoglossal palsy, bilateral pyramidal tract signs, and gaze-evoked nystagmus.[n.neurology.org]
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]
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]
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]
Pseudopseudohypoparathyroidism
Keywords: Albright hereditary osteodystrophy; GNAS1; MC4R; normal stature; pseudopseudohypoparathyroidism Figures Normal stature, obesity, round face, short neck (A), short[e-enm.org]
His physical signs included short stature, thick neck, short fourth metacarpals and metatarsals, and a spastic paraparesis.[ncbi.nlm.nih.gov]
Other features may include a rounded face, wide neck and small subcutaneous ossifications (hard lumps containing true bone under the skin).[cafamily.org.uk]
Mucopolysaccharidosis 2
Many have short necks, a protuberant abdomen, a broad chest, and facial coarseness.[disorders.eyes.arizona.edu]
Signs and symptoms of MPS 2A include: Macrocephaly Coarse facies Large rounded cheeks Thick lips Hypertrophic adenoids and tonsils Macroglossia Hoarse voice Short neck Retinal[symptoma.com]
Thick skin, short neck, widely spaced teeth, and hearing loss of varying degree are also commonly present.[rarediseases.org]
Legius Syndrome
neck Excess skin on back of neck Wideset eyes Downslanting palpebral fissures Short, broad nose with flat tip Depressed nasal root Low-set ears that point toward the back[forgottendiseases.org]
Noonan syndrome : short size (40%-50%), facial dysmorphism (hypertelorism, antimongoloid palpebral fissures, ptosis, low-set and posteriorly rotated ears, etc.), short neck[admerahealth.com]
neck Pectus deformity Cryptorchidism NA NA NA NA NA Skin changesKeratosis Nevi/lentigines Caf-au-lait spots Short stature2 SD 2 SD 1 SD 1 SD Croonen et al.[docslide.com.br]
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]
Spondyloepiphyseal Dysplasia Congenita
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]
Features of this condition include short stature ( dwarfism ); a very short trunk and neck; abnormal curvature of the spine; barrel-shaped chest; shortened limbs; an abnormality[rarediseases.info.nih.gov]
Down Syndrome
Some common physical signs of the disorder include a small head, flattened face, short neck, up-slanted eyes, low-set ears, enlarged tongue and lips, and sloping underchin[britannica.com]
Some common physical features of Down syndrome include: A flattened face, especially the bridge of the nose Almond-shaped eyes that slant up A short neck Small ears A tongue[cdc.gov]