Create issue ticket

78 Possible Causes for Bird-like Facies, Disharmonic Maturation of Phalanges and Carpal Bones

  • Seckel Syndrome

    ; (3) marked disharmonic bone maturation between carpals and phalanges, between individual carpals, and from side to side; (4) alteration in the length of the hand bones,[ncbi.nlm.nih.gov] The radiological findings included: (1) ivory epiphyses affecting all phalanges in one patient and many phalanges in another; (2) cone-shaped epiphyses in the proximal phalanges[ncbi.nlm.nih.gov]

  • Hallermann-Streiff Syndrome

    Patients show bird-like facies, dental abnormalities, and hypotrichosis with various ophthalmic abnormalities.[ncbi.nlm.nih.gov] Hallermann-Streiff syndrome is a rare congenital disorder characterized by bird-like facies and dental anomalies.[ncbi.nlm.nih.gov] It is characterized by bird-like facies, dental abnormalities, hypotrichosis, atrophy of skin, congenital cataracts, bilateral microphthalmia, and proportionate nanism.[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Sotos Syndrome

    The full text of this article hosted at iucr.org is unavailable due to technical difficulties. dHPLC Screening of the NSD1 gene Identifies Nine Novel Mutations – Summary of the first 100 Sotos Syndrome Mutations Morten Duno Corresponding Author Clinical Genetics, 4062, Rigshospitalet, Blegdamsvej 9, DK‐2100 Copenhagen,[…][doi.org]

    Missing: Bird-like Facies
  • Werner Syndrome

    He had a high-pitched voice, hoarseness, a characteristic bird-like facies, bilateral cataracts, generalized osteoporosis, hypotrichosis, atrophic and poikilodermic skin,[ncbi.nlm.nih.gov] […] symptoms of early onset bilateral cataracts, thinning and graying of the hair, short stature and skin changes (ankle ulceration, hyperkeratosis, tight skin, age spots, ''bird-like[orpha.net] 'Bird-like' facies. Short stature. Premature greying and/or balding. Other signs and symptoms Type 2 diabetes mellitus. Hypogonadism and decreased fertility.[patient.info]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Skin Atrophy

    like facies, cataract of both eyes for which she was operated, H/O diabetes mellitus since 10 years on treatment, all her complaints were less severe compared to her elder[medical-dictionary.thefreedictionary.com] Systemic Features: The facies are sometimes described as 'bird-like' with a beaked nose, brachycephaly, and micrognathia.[disorders.eyes.arizona.edu] […] younger sister, 33 year old female came with similar complaints, sparse hair, mottled pigmentation, dry atrophic skin, loss of subcutaneous fat, prematurely aged appearance, bird[medical-dictionary.thefreedictionary.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Insulin-Resistance Syndrome Type B

    […] most severe of the conditions associated with mutations in the insulin-receptor gene, is characterized additionally by intrauterine growth retardation, a characteristic bird-like[oncohemakey.com] Werner’s syndrome, a progeria syndrome, presents with bird-like facies, gray hair, cataract formation, slender extremities, and severe insulin resistance ( 16 ).[academic.oup.com] facies, fasting hypoglycemia, and glucose intolerance despite insulin levels that may be more than 100 times the normal values ( Fig. 28.4 ).[oncohemakey.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Isolated Congenital Sclerocornea

    […] hyperactivity disorder Abnormality of the nervous system Muscular hypotonia Hyperactivity Macrotia Retrognathia Low-set, posteriorly rotated ears Small hand Thin upper lip vermilion Bird-like[mendelian.co] facies Decrease in T cell count Short philtrum Autism B lymphocytopenia Inguinal hernia Leukocytosis Cleft palate Motor delay Chronic lung disease Fine hair Laryngomalacia[mendelian.co]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Mandibuloacral Dysostosis

    Some patients may show premature aging features including bird-like facies, high-pitched voice, alopecia, skin atrophy, and nail dysplasia [ 2, 6 ].[bmcpediatr.biomedcentral.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Pulmonary Lymphoma

    Linfoma de células B rico en células T Nijmegen breakage syndrome is a rare autosomal recessive disorder characterized by a peculiar dysmorphic syndrome (microcephaly, “bird-like[analesdepediatria.org] facies, short stature), combined immunodeficiency with recurrent infections, X-ray hypersensitivity and predisposition to malignancy, mainly lymphomas, as a consequence of[analesdepediatria.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Gingival Fibromatosis-Progressive Deafness Syndrome

    […] of permanent teeth Edema Sparse hair Erythema Macrocephaly Rare Symptoms - Less than 30% cases Relative macrocephaly Ridged nail Ectodermal dysplasia Hyperhidrosis Pain Bird-like[mendelian.co] facies Growth delay Down-sloping shoulders Micrognathia Convex nasal ridge Abnormal facial shape Prominent forehead Onycholysis Cataract Infertility Acrania Reduced number[mendelian.co]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones

Further symptoms