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1,281 Possible Causes for Juvenile Familial Leg Ulcers, Large Anterior Fontanel at Birth, Pseudohypoparathyroidism

  • Progeroid Syndrome Type Petty

    […] open anterior fontanelle, and nor- mal cognitive and motor development.[docslide.net] ulcers juvenile cataracts hypogonadism, which is associated with reduced fertility tendency to develop diabetes calcification of blood vessels osteoporosis metastatic calcification[plasticsurgerykey.com] 24 Lipodystrophy Familial Partial 146 WolfHirschhorn Syndrome 25 Polycystic Ovary Syndrome 147 Wolfram Syndrome 26 Precocious Puberty 148 XLMRHypotonic Facies Syndrome 27 Pseudohypoparathyroidism[books.google.com]

  • Congenital Non-Goitrous Hypothyroidism Type 4

    Within the first month after birth, the patient manifested feeding difficulties, lethargy, persistent jaundice, umbilical hernia, and large anterior and open posterior fontanels[ncbi.nlm.nih.gov]

    Missing: Juvenile Familial Leg Ulcers
  • Raine Syndrome

    The baby presented at birth with severe craniofacial anomalies including a wide anterior fontanelle, exophthalmos, severe depression of the nasal bridge with a hypoplastic[ncbi.nlm.nih.gov] type 1A Manouvrier syndrome Aicardi-Goutieres syndrome Andersen-Tawil syndrome Pyropoikilocytosis hereditary Dwarfism, proportionate with hip dislocation Fibular aplasia[checkrare.com] The baby presented at birth with severe craniofacial anomalies including a wide anterior fontanel, exophthalmos, severe depression of the nasal bridge with a hypoplastic midface[cags.org.ae]

    Missing: Juvenile Familial Leg Ulcers
  • Hypothyroidism

    Pseudohypoparathyroidism type 1a presenting as congenital hypothyroidism. J. Pediatr. 107, 413–415 (1985). 55. Kempers, M. J. et al.[dx.doi.org] The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B.[doi.org] Pseudohypoparathyroidism type 1a with congenital hypothyroidism. J. Pediatr. Endocrinol. Metab. 19, 1049–1052 (2006). 51. Beck-Peccoz, P. et al.[dx.doi.org]

    Missing: Juvenile Familial Leg Ulcers Large Anterior Fontanel at Birth
  • Platyspondylic Lethal Skeletal Dysplasia Type San Diego

    Distinctive facial features include macrocephaly, large anterior fontanel, frontal bossing, proptosis and low nasal bridge.[orpha.net] 24 Lipodystrophy Familial Partial 146 WolfHirschhorn Syndrome 25 Polycystic Ovary Syndrome 147 Wolfram Syndrome 26 Precocious Puberty 148 XLMRHypotonic Facies Syndrome 27 Pseudohypoparathyroidism[books.google.ro] Neonates usually die shortly after birth due to respiratory insufficiency and/or spinal cord/brain stem compression.[orpha.net]

    Missing: Juvenile Familial Leg Ulcers
  • Pseudohypoparathyroidism

    The term pseudopseudohypoparathyroidism is used to describe a condition where the individual has the phenotypic appearance of pseudohypoparathyroidism type 1a, but is biochemically[en.wikipedia.org] One of the patients had phenotypically evident pseudohypoparathyroidism type-1a hence, PTH resistance was suspected.[ncbi.nlm.nih.gov] Increased Prevalence of Sleep Apnea in Children with Pseudohypoparathyroidism Type 1a. Horm Res Paediatr. 2015. 84 (1):1-5. [Medline]. [Full Text].[emedicine.com]

    Missing: Juvenile Familial Leg Ulcers Large Anterior Fontanel at Birth
  • Congenital Hypothyroidism

    Over time, undiagnosed children appear lethargic, with slow movements, hoarse cry, feeding difficulties, constipation, macroglossia, umbilical hernia, large anterior or posterior[scielo.br] Pseudohypoparathyroidism type 1a (PHP1a) results from an inactivating mutation in the GNAS1 gene.[ncbi.nlm.nih.gov] Hypothyroidism is a particular condition observed in pseudohypoparathyroidism (PHP), a rare disorder characterized by parathyroid (PTH) resistance leading to hypocalcemia[ncbi.nlm.nih.gov]

    Missing: Juvenile Familial Leg Ulcers
  • Hypoparathyroidism

    Pseudohypoparathyroidism type 1A : end-organ (i.e., bones and kidneys) resistance to parathyroid hormone ( PTH ) despite sufficient PTH synthesis due to a defective G s protein[amboss.com] Defects in PTH action (pseudohypoparathyroidism): this occurs when the somatic features of pseudohypoparathyroidism are present in patients with normal serum calcium and phosphate[patient.info] The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.[emedicine.com]

    Missing: Juvenile Familial Leg Ulcers Large Anterior Fontanel at Birth
  • Hypocalcemia

    Pseudohypoparathyroidism type 1b (PHP-1b) is usually diagnosed on various symptoms of hypocalcemia.[ncbi.nlm.nih.gov] Myopathy with high creatinkinase activity can be a rare manifestation of hypocalcemia of various origin, such as vitamin D deficiency, hypoparathyroidism, pseudohypoparathyroidism[ncbi.nlm.nih.gov] A case of Pseudohypoparathyroidism 1b is reported, who presented with signs and symptoms of hypocalcemia.[ncbi.nlm.nih.gov]

    Missing: Juvenile Familial Leg Ulcers Large Anterior Fontanel at Birth
  • Pseudopseudohypoparathyroidism

    types 1A and 1B.[doi.org] Germain-Lee, ''Body Mass Index Differences in Pseudohypoparathyroidism Type 1a Versus '''Pseudopseudohypoparathyroidism May Implicate Paternal Imprinting of G?[wikidiff.com] Shoemaker, Cognitive and behavioral phenotype of children with pseudohypoparathyroidism type 1A, American Journal of Medical Genetics Part A, 176, 2, (283-289), (2017).[doi.org]

    Missing: Juvenile Familial Leg Ulcers Large Anterior Fontanel at Birth

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