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3,205 Possible Causes for High Peaks of Upper Lip Vermilion Border, Relative Macrocephaly in Childhood, Short Neck

  • 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] The number of café au lait macules increases with age in childhood, similar to what is observed in NF1 [Author, personal observation]. Macrocephaly.[ncbi.nlm.nih.gov] Noonan syndrome : short size (40%-50%), facial dysmorphism (hypertelorism, antimongoloid palpebral fissures, ptosis, low-set and posteriorly rotated ears, etc.), short neck[admerahealth.com]

  • Noonan Syndrome

    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] Clinical phenotype (facial dysmorphism, soft hair, short neck, broad chest, widely spaced nipples, mild pectus carinatum, deep palmar creases, unilateral cryptorchidism),[ncbi.nlm.nih.gov] 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]

    Missing: Relative Macrocephaly in Childhood
  • 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]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • 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]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • 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]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • 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]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • 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]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • 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]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • 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]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • 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]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood

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