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854 Possible Causes for Hyperconvex Fingernails, Overfolded Superior Helix, Short Philtrum

  • Wolf-Hirschhorn Syndrome

    The facial dysmorphic features in the present case were dolichocephaly; high forehead; large rectangular nose continuing to the eyebrows; hypertelorism; short philtrum; carp-shaped[ncbi.nlm.nih.gov] The facial phenotype is characterized by hypertelorism, protruding eyes, prominent glabella, broad nasal bridge and short philtrum.[ncbi.nlm.nih.gov] The most common characteristics include a distinct craniofacial phenotype (microcephaly, micrognathia, short philtrum, prominent glabella, ocular hypertelorism, dysplastic[en.wikipedia.org]

    Missing: Overfolded Superior Helix
  • Coffin-Lowry Syndrome

    He had dysmorphic features with coarse facial traits, slightly downslanting palpebral fissures, a short philtrum, a long tongue, hypodontia, and a thick everted lower lip.[karger.com] superior helix [ Graham et al 1998 ].[ncbi.nlm.nih.gov] fingernails 0001812 Hypoplasia of the maxilla Decreased size of maxilla Decreased size of upper jaw Maxillary deficiency Maxillary retrusion Small maxilla Small upper jaw[rarediseases.info.nih.gov]

  • Lenz-Majewski Syndrome

    […] palm Neurological speech impairment Rigidity Long philtrum Abnormality of finger Proteinuria Cranial hyperostosis Abnormality of the metaphysis Bowing of the long bones Delayed[mendelian.co] fingernails 0001812 Hypogonadism Decreased activity of gonads 0000135 Hypoplastic fingernail Small fingernail Underdeveloped fingernail [ more ] 0001804 Kyphosis Hunched[rarediseases.info.nih.gov] […] metacarpal Juvenile rheumatoid arthritis Arthropathy Smooth philtrum Synophrys Muscular dystrophy Hip dislocation Deeply set eye Joint swelling Abnormality of the knee Flattened[mendelian.co]

    Missing: Overfolded Superior Helix
  • Acrocallosal Syndrome

    […] describes on a 1-year-old girl with macrocephaly, bulging forehead, ocular hypertelorism, antimongoloid palpebral slant, convergent strabismus, atrophy of optic papillae, short[ncbi.nlm.nih.gov] In addition to the classic facial deformities aforementioned, the other most commonly reported oral findings are: short philtrum/upper lip (30%); high-arched palate (30%);[ncbi.nlm.nih.gov] Additional malformations have been described occasionally: short philtrum/upper lip, high-arched palate, cleft lip/palate, heart defects, hypospadias and inguinal and umbilical[orpha.net]

    Missing: Hyperconvex Fingernails Overfolded Superior Helix
  • Char Syndrome

    The facial features include hypertelorism, strabismus, flat nasal bridge, short philtrum and a triangular mouth.[ncbi.nlm.nih.gov] In this case study, we investigate a child presenting with patent ductus arteriosus, short philtrum, duck-bill lips, strabismus, a flat nasal bridge, a broad forehead, low-set[ncbi.nlm.nih.gov] Char initially described affected neonates to have low-set ears, bilateral ptosis, a short philtrum and duckbill lips.[symptoma.com]

    Missing: Hyperconvex Fingernails Overfolded Superior Helix
  • Microdeletion 3q29 Syndrome

    The most common features include mild-to-moderate intellectual deficit and slightly dysmorphic facial features: microcephaly, long and narrow face, short philtrum, large posteriorly[orpha.net] philtrum and large ears.[ncbi.nlm.nih.gov] philtrum, and high nasal bridge.[research.manchester.ac.uk]

    Missing: Hyperconvex Fingernails Overfolded Superior Helix
  • Pitt-Hopkins Syndrome

    As the child grows, they may develop deep-set eyes, a high nasal root with prominent nasal bridge, wide nostrils and down-turned nasal tip; a short philtrum, and a wide mouth[ncbi.nlm.nih.gov] Note prominent nose with depressed tip, short philtrum, full lips, wide mouth with downturned corners, and well-developed chin.[ncbi.nlm.nih.gov] Note wide nasal ridge and alae, short philtrum, and full lips, with everted lower lip. Figure 4. Girl age ten years with Pitt-Hopkins syndrome.[ncbi.nlm.nih.gov]

    Missing: Hyperconvex Fingernails Overfolded Superior Helix
  • Goldberg-Shprintzen Syndrome

    At 2 years, she manifested the described dysmorphism, progressive microcephaly, mildly downward slanting palpebral fissures, a flat occiput, short philtrum, and large ears[jmg.bmj.com] The nasal tip lengthens and becomes more depressed, the columella is more prominent, leading to the appearance of a short philtrum, the nasal profile becomes convex, the face[ojrd.biomedcentral.com]

    Missing: Hyperconvex Fingernails Overfolded Superior Helix
  • Branchio-Oculo-Facial Syndrome

    His maternal grandmother had mild facial anomalies including a short philtrum and bilateral congenital nasolacrimal duct obstruction but had no evidence of any ocular abnormalities[ncbi.nlm.nih.gov] […] with hypoplastic superior helix, posterior and preauricular pit, supraauricular sinuses, conductive hearing loss secondary to fusion of the middle ear ossicles), the eyes[accessanesthesiology.mhmedical.com] […] columella,long philtrum.[proceedings.aios.org]

    Missing: Hyperconvex Fingernails
  • X-linked Distal Spinal Muscular Atrophy Type 3

    - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow rib cage / thorax - Proximally set thumb - Scoliosis - Short neck - Short / small nose - Simian crease[csbg.cnb.csic.es] fingernails[csbg.cnb.csic.es] […] thrive / difficulties for feeding in infancy / growth delay - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Kyphosis - Long philtrum[csbg.cnb.csic.es]

    Missing: Overfolded Superior Helix