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539 Possible Causes for Beaked Nose, Psychomotor Development Profoundly Delayed, Wide Space Between the First and Second Toe

  • Seckel Syndrome

    This syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a "bird-headed" like appearance (beaked nose, receding forehead, prominent[ncbi.nlm.nih.gov] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] General appearance of the patient was characterized by small forehead, posteriorly slanted ears, slightly beaked nose, midfacial hypoplasia very stunted stature with microcephaly[ncbi.nlm.nih.gov]

  • Dubowitz Syndrome

    nose, abnormally large eyes, a narrow face, malformed ears, and/or an unusually small jaw.[bertsbigadventure.org] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] […] features associated with Seckel syndrome include an abnormally small head; varying degrees of mental retardation; and/or unusual characteristic facial features including “beak-like[bertsbigadventure.org]

    Missing: Psychomotor Development Profoundly Delayed
  • Cerebral Cortical Atrophy

    delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss (summary by Fragaki et al., 2013 ).[mendelian.co] Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterized by infantile onset of refractory and recurrent seizures associated with profoundly[mendelian.co]

    Missing: Wide Space Between the First and Second Toe
  • Seckel Syndrome Type 2

    nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Craniosynostosis 0001363 Delayed skeletal maturation Delayed bone maturation Delayed skeletal[rarediseases.info.nih.gov] nose, narrow face, and receding lower jaw.[resourcerepository.org] nose.[rarediseases.org]

    Missing: Psychomotor Development Profoundly Delayed
  • Genee-Wiedemann Syndrome

    Figure 1: (a) Extraoral view showing frontal bossing, hypertelorism, wide nasal bridge and macrostomia; (b) Profi le view showing cochlear implant and beak-shaped nose; (c[jomfp.in] He had a wide space between the first and second toe of his feet and subungual fibroma on the second and third toe of the right foot and on the third toe of the left foot.[jmg.bmj.com] There was cutaneous syndactyly of the second and third fingers of the left hand.[jmg.bmj.com]

    Missing: Psychomotor Development Profoundly Delayed
  • Kenny-Caffey Syndrome Type 1

    nose, and micrognathia.Visit the Orphanet disease page for more resources.[malacards.org] space between the first and second toes.[medcraveonline.com] There were no chromosomal abnormalities but all patients shared several dysmorphic features including deep set eyes, microcephaly, thin lips, beaked nose tip, external ear[scienceopen.com]

    Missing: Psychomotor Development Profoundly Delayed
  • Arterial Tortuosity Syndrome

    Other typical manifestations are dysmorphic features (including an elongated face, micrognathia, a high palate, and a beaked nose), soft and hyperextensible skin, cutis laxa[orpha.net] nose with soft cartilage; a high, arched roof of the mouth (palate); a small lower jaw ( micrognathia ); and large ears.[ghr.nlm.nih.gov] nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Cutis laxa Loose and inelastic skin 0000973 Downslanted palpebral fissures Downward slanting[rarediseases.info.nih.gov]

    Missing: Psychomotor Development Profoundly Delayed Wide Space Between the First and Second Toe
  • Systemic Scleroderma

    Face Matt telangiectases on face, chest, palms Peri-oral furrowing (fat loss) Microstomia (limited oral aperture defined as interlabial distance 4.5 cm) Beaked nose Other[dermnetnz.org]

    Missing: Psychomotor Development Profoundly Delayed Wide Space Between the First and Second Toe
  • Hallermann-Streiff Syndrome

    The Hallermann-Streiff syndrome is characterized by bird-like face, micropthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy[ncbi.nlm.nih.gov] Abstract The Hallermann-Streiff syndrome is characterized by dyscephaly, hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, and proportionate short stature[ncbi.nlm.nih.gov] nose, a hypoplastic mandible, and orodental anomalies.[ncbi.nlm.nih.gov]

    Missing: Psychomotor Development Profoundly Delayed Wide Space Between the First and Second Toe
  • Cutis Laxa

    Typically, patients present with characteristic facial features including a premature aged appearance, long philtrum, a high forehead, large ears, and a beaked nose.[ncbi.nlm.nih.gov] Other reported osteoarticular features are: a wide space between the first and second toes; talipes equinovarus; metatarsus adductus; genu recurvatum or genu valgum; flat[scielo.br] A beaked nose was present in most patients (70%).[ojrd.biomedcentral.com]

    Missing: Psychomotor Development Profoundly Delayed

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