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80 Possible Causes for High Peaks of Upper Lip Vermilion Border, Relative Macrocephaly in Childhood, Short Stature - Postnatal Onset

  • Noonan Syndrome

    It is characterized by postnatal-onset short stature, characteristic facial changes, webbed neck, pectus carinatum, or excavatum, congenital heart defects, and bleeding abnormalities[ncbi.nlm.nih.gov] It is characterized by postnatalonset short stature, characteristic facial changes, webbed neck, pectus carinatum, or excavatum, congenital heart defects, and bleeding abnormalities[doi.org]

    Missing: Relative Macrocephaly in Childhood
  • Legius Syndrome

    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] Absolute or relative macrocephaly has been seen in children and adults with Legius syndrome.[ncbi.nlm.nih.gov]

    Missing: Short Stature - Postnatal Onset
  • Schwartz-Jampel Syndrome

    Chondrodystrophic myotonia or Schwartz-Jampel syndrome is a rare genetic disorder characterized by myotonia and skeletal dysplasia. It may be progressive in nature. Recently, the gene responsible for Schwartz-Jampel syndrome has been found and the defective protein it encodes leads to abnormal cartilage[…][ncbi.nlm.nih.gov]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • Curry Hall Syndrome

    peaks of upper lip vermilion border; High arched palate; [Teeth]; Dental malocclusion; [Neck]; Webbed neck; Cystic hygroma; Short neck CARDIOVASCULAR: [Heart]; Congenital[genome.jp] Clinical Synopsis: INHERITANCE: Autosomal dominant GROWTH: [Height]; Short stature (postnatal onset); [Other]; Failure to thrive in infancy; Specific growth curves are available[genome.jp] […] rotated ears; Nerve deafness; [Eyes]; Ptosis; Hypertelorism; Down-slanting palpebral fissures; Epicanthal folds; Myopia; Blue-green irides; [Mouth]; Deeply grooved philtrum; High[genome.jp]

    Missing: Relative Macrocephaly in Childhood
  • Joint Subluxation

    Saul-Wilson syndrome (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative microcephaly, frontal bossing, prominent eyes[ncbi.nlm.nih.gov]

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

    Brain Overgrowth and Macrocephaly The findings of early postnatal brain “overgrowth” in ASD followed by normalization or relative growth arrest in childhood are intriguing[ncbi.nlm.nih.gov]

    Missing: High Peaks of Upper Lip Vermilion Border Short Stature - Postnatal Onset
  • Bruck Syndrome

    Get Update Overview Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe[diseaseinfosearch.org] OMIM : 58 Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb[malacards.org] OMIM : 57 Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb[malacards.org]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • Hypogonadotropic Hypogonadism Type 18

    […] of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis ( McPherson and Clemens, 1997 ).[mendelian.co] MONDO NCIT More info about OSTEOGENESIS IMPERFECTA, TYPE III; OI3 Low match BRUCK SYNDROME 1; BRKS1 Bruck syndrome is characterized by congenital contractures with pterygia, onset[mendelian.co]

    Missing: High Peaks of Upper Lip Vermilion Border Relative Macrocephaly in Childhood
  • Familial Short Stature

    A common alternative definition is similar to that for postnatal onset of short stature: two standard deviations below the average for the gestational age and sex.[nature.com]

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

    Clinical features that may be recognized from birth in the Amish, where the condition occurs at an increased frequency, include low birth weight, relative macrocephaly, triangular[ncbi.nlm.nih.gov] macrocephaly, triangular face shape, poor feeding Early infancy / childhood: delayed walking, delayed speech, swallowing difficulties Pyramidal signs: hyperreflexia, extensor[ncbi.nlm.nih.gov] Neurologic features become more apparent in early childhood and progress slowly. Early developmental milestones.[ncbi.nlm.nih.gov]

    Missing: High Peaks of Upper Lip Vermilion Border Short Stature - Postnatal Onset