Create issue ticket

125 Possible Causes for Hypoplastic Phalanges, Short Philtrum

  • Cooks Syndrome

    Onychonychia Hypoplastic Distal Phalanges “Onychonychia Hypoplastic Distal Phalanges” In our body, the autosomal dominant dis-order, Onychonychia Hypoplastic Distal Phalanges[wellnessadvocate.com] We present a case and discussion of a patient with congenital anonychia, absent distal phalanges, and rudimentary hypoplastic middle phalanges and brachydactyly, consistent[ncbi.nlm.nih.gov] In autosomal dominant brachydactyly with absence of middle phalanges and hypoplastic nails, the changes in the middle phalanges are distinctive.[ijpd.in]

  • Char Syndrome

    The facial features include hypertelorism, strabismus, flat nasal bridge, short philtrum and a triangular mouth.[ncbi.nlm.nih.gov] The remaining phalanges of the fifth finger are hypoplastic. Fifth finger clinodactyly has also been described in numerous CS patients.[symptoma.com] 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]

  • DiGeorge Syndrome

    In the orofacial area, hypertelorism, a short philtrum, thick and reflected lips, and hypoplasia of the nasopharynx were also observed.[ncbi.nlm.nih.gov] […] bones in the wrist and elongated phalanges in the first digit of the forelimb.[doi.org] DGS Symptoms & Diagnosis Symptoms Certain facial features are often seen with DGS - low set ears, underdeveloped chin, a short philtrum (the vertical groove on the upper lip[aaaai.org]

  • 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 hands are wide and short with phalanges of diminishing width, dermatoglyphics are not characteristic.[ojrd.biomedcentral.com] The facial phenotype is characterized by hypertelorism, protruding eyes, prominent glabella, broad nasal bridge and short philtrum.[ncbi.nlm.nih.gov]

  • Deletion of the Long Arm of Chromosome 18

    Dysmorphology [ edit ] Common facial features include a flat and broad nasal bridge; epicanthic folds ; wide mouth; short philtrum ; everted lower lip; small and slightly[en.wikipedia.org] The hands are wide and short with phalanges of diminishing width, dermatoglyphics are not characteristic.[ojrd.biomedcentral.com] The main clinical features are short stature, round face with short philtrum, palpebral ptosis and large ears with detached pinnae.[ojrd.biomedcentral.com]

  • Cenani Syndactylism

    […] limbs / micromelia / brachymelia - Short philtrum - Short / small nose - Vertebral segmentation anomaly / hemivertebrae[csbg.cnb.csic.es] phalanges.[kundoc.com] , a short prominent philtrum and malar hypoplasia.[ncbi.nlm.nih.gov]

  • Hyperphosphatasia - Intellectual Disability Syndrome

    Midface hypoplasia, prognathism, hypertelorism, long palpebral fissures, arched eyebrows, broad nasal bridge and tip, cleft palate (rare), short philtrum, downturned corners[iofbonehealth.org] 2 showing hypoplastic distal phalanges. ( c ) Broad hallux and hypoplastic toenails of patient 8.[nature.com] (a) Brachytelephalangy with missing and hypoplastic nails of fingers. (b) Hand radiograph showing hypoplastic distal phalanges.[iofbonehealth.org]

  • Fetal Hydantoin Syndrome

    The abnormal facial features include a flat nasal bridge, short nose, philtrum or an erect, undeveloped groove at the middle of the upper lip, a wide mouth; cleft lips or[medicalfoster.com] Fetal Hydantoin syndrome mnemonic - PHENytoin Fetal hydantoin syndrome involves microcephaly, dysmorphic craniofacial features, hypoplastic nails, hypoplastic distal phalanges[medicowesome.com] , short palpebral fissures, and a thin vermillion border) Central nervous system damage â ” Clinically significant structural, neurological, or functional impairment Prenatal[prep4usmle.com]

  • 3q13.31 Microdeletion Syndrome

    philtrum and protruding lips.[ncbi.nlm.nih.gov] […] upper limb phalanges, DD including speech delay, and ID.[ecaruca.radboudumc.nl] OMIM : 57 The chromosome 3q13.31 deletion syndrome is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal[malacards.org]

  • Patau Syndrome

    Partial trisomy of the distal segment of chromosome 13 results in generally less severe, but still serious, symptoms and a distinctive facial appearance including a short[medical-dictionary.thefreedictionary.com] […] terminal phalanges.[ncbi.nlm.nih.gov] […] upturned nose, a longer than usual area between the nose and upper lip (philtrum), bushy eyebrows, and tumors made up of blood capillaries on the forehead (frontal capillary[medical-dictionary.thefreedictionary.com]

Further symptoms

Similar symptoms