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35 Possible Causes for Highly Variable Dysmorphic Features

  • Growth Hormone Deficiency

    Haploinsufficiency of the SHOX gene causes short stature with highly variable clinical severity, ranging from isolated short stature without dysmorphic features to Léri-Weill[ncbi.nlm.nih.gov]

  • Cutis Laxa

    Progeroid symptoms, dysmorphic features, hypotonia and psychomotor retardation are highly overlapping in the early phase of these disorders.[ncbi.nlm.nih.gov] Here, we describe a highly variable phenotype in 13 patients with ARCL2, including the oldest affected individual described so far, who showed strikingly progressive dysmorphic[ncbi.nlm.nih.gov] The most common, genetically highly heterogeneous form of autosomal recessive CL, ARCL2, is frequently associated with variable metabolic and neurological symptoms.[ncbi.nlm.nih.gov]

  • Pituitary Dwarfism

    Haploinsufficiency of the SHOX gene causes short stature with highly variable clinical severity, ranging from isolated short stature without dysmorphic features to Léri-Weill[ncbi.nlm.nih.gov]

  • Laron Syndrome with Immunodeficiency

    Additional features include contractures, feeding difficulties, and variable dysmorphic facial features.[mendelian.co] The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability.[mendelian.co]

  • Noonan Syndrome-Like Disorder with Juvenile Myelomonocytic Leukemia

    Clinical features are highly variable, including facial dysmorphism, short neck, developmental delay, hyperextensible joints and thorax abnormalities with widely spaced nipples[uniprot.org] The facial features consist of triangular face with hypertelorism, large low-set ears, ptosis, and flat nasal bridge. Some patients manifest cardiac defects.[uniprot.org]

  • Alagille Syndrome

    Alagille syndrome (AGS) is a highly variable, autosomal dominant disorder that affects the liver, heart, eyes, and skeleton with recognizable facial dysmorphic features including[journals.lww.com]

  • Laurence Moon Syndrome

    The phenotype was highly variable within and between families. Impaired co‐ordination and ataxia occurred in 86% (18/21).[doi.org] Assessments were performed in 1986, 1993, and 2001 and included neurological assessments, anthropometric measurements, and clinical photographs to assess dysmorphic features[doi.org]

  • Spastic Ataxia with Congenital Miosis

    variable phenotype with respect to facial dysmorphism and neurologic features; Female carriers may have mild mental retardation; Allelic to Rett syndrome (312750) MOLECULAR[findzebra.com] EEG abnormalities; [Behavioral/psychiatric manifestations]; Psychosis; Mood instability; Schizophrenic symptoms (reported in 1 patient) MISCELLANEOUS: Slowly progressive; Highly[findzebra.com]

  • Talipes Calcaneovalgus

    Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.[ncbi.nlm.nih.gov] All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed[ncbi.nlm.nih.gov]

  • Hyperkalemic Periodic Paralysis

    The syndrome is characterized by the highly variable clinical triad of PP, ventricular ectopy, and potential dysmorphic features ( 49, 50 ).[doi.org]

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