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4,105 Possible Causes for Juvenile Familial Leg Ulcers, Large Anterior Fontanel at Birth, Short Stature

  • 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] Our patient had the common craniofacial features as well as, uncommon features such as protruding tongue, short stature, and hypoplastic distal phalanges.[ncbi.nlm.nih.gov] A short stature and severe dental demineralization were reported at an elementary school age.[ncbi.nlm.nih.gov]

    Missing: Juvenile Familial Leg Ulcers
  • Oculocerebrorenal Syndrome

    stature, mucocutaneous anomalies (eruptive vellus hair cysts, tricoepithiloma, excess skin folds and eruption cysts in oral cavity), dental malformations, cryptorchidism[orpha.net] Systemic Features: Mental retardation, hypotonia, short stature, and developmental delays are common. Seizures and behavior problems are seen in older children.[disorders.eyes.arizona.edu] Other clinical manifestations include facial dysmorphism (frontal bossing, deep-set eyes, chubby cheeks, fair complexion), destructive teno-synovitis in older patients, short[orpha.net]

    Missing: Juvenile Familial Leg Ulcers
  • Platyspondylic Lethal Skeletal Dysplasia Type San Diego

    Distinctive facial features include macrocephaly, large anterior fontanel, frontal bossing, proptosis and low nasal bridge.[orpha.net] short stature ( Q77.4 ) hypochondroplastic short stature ( Q77.4 ) nutritional short stature ( E45 ) pituitary short stature ( E23.0 ) progeria ( E34.8 ) renal short stature[icd10data.com] […] of skeletal dysplasias and dysostoses ...[ibis-birthdefects.org]

    Missing: Juvenile Familial Leg Ulcers
  • Progeroid Syndrome Type Petty

    […] open anterior fontanelle, and nor- mal cognitive and motor development.[docslide.net] stature * Small face * Underdeveloped end bones of fingers * Thick eyebrows * Umbilical hernia * Shagreen patch * Reduced fat under skin Causes - Progeroid syndrome Petty[checkorphan.org] ulcers juvenile cataracts hypogonadism, which is associated with reduced fertility tendency to develop diabetes calcification of blood vessels osteoporosis metastatic calcification[plasticsurgerykey.com]

  • Robinow Syndrome

    —A 9-month-old black female infant with a negative family history and bilateral epiphora since birth had macrocrania, a large anterior fontanelle, frontal bossing, hypertelorism[jamanetwork.com] We describe a child with short stature of prenatal onset, rhizomelic limb shortness affecting the upper limbs particularly, and an unusual face.[ncbi.nlm.nih.gov] It is characterized by short stature, limb shortening, genital hypoplasia, and craniofacial abnormalities.[ncbi.nlm.nih.gov]

    Missing: Juvenile Familial Leg Ulcers
  • Wiedemann-Rautenstrauch Syndrome

    They have physical abnormalities including a large head (macrocephaly), sparse hair, prominent scalp veins, inward-folded eyelid (entropion), widened anterior fontanelles,[en.wikipedia.org] Patients have premature aging aspect, short stature and a poorly muscled build.[accessanesthesiology.mhmedical.com] , and lipids and hormone metabolism. [7] Affected individuals exhibit intrauterine and postnatal growth retardation, leading to short stature and an aged appearance from birth[medbox.iiab.me]

    Missing: Juvenile Familial Leg Ulcers
  • Cerebral Cortical Atrophy

    stature SOURCES: MONDO SCTID UMLS OMIM GARD MESH ORPHANET More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N Medium match METHEMOGLOBINEMIA DUE TO DEFICIENCY[mendelian.co] Short stature is common and the joints may have limited motion.[disorders.eyes.arizona.edu] stature Generalized hypotonia SOURCES: DOID UMLS OMIM MONDO GARD More info about MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 Top 5 symptoms[mendelian.co]

    Missing: Juvenile Familial Leg Ulcers
  • Gorlin Psaume Syndrome

    Dysmorphic craniofacial features included a large anterior fontanel, widely spaced eyes, broad, and bifid nasal tip, cleft lip and palate, microretrognathia, and simple apparently[ncbi.nlm.nih.gov] stature, facial Multiple malformation syndrome, small stature, without skeletal dysplasia MVRCS association Nail-patella syndrome Nance-Horan syndrome Neu-Laxova syndrome[icd9data.com] stature, facial Multiple malformation syndrome, small stature, without skeletal dysplasia MVRCS association Myhre syndrome Nail-patella syndrome Nance-Horan syndrome Neu-Laxova[icdlist.com]

    Missing: Juvenile Familial Leg Ulcers
  • Werner Syndrome

    Diagnostic methods A clinical diagnosis is based on the presence of all major symptoms (cataracts, skin changes, premature graying/thinning of hair and short stature) and[orpha.net] Neuropathy or familial leg ulcers of juvenile onset.[ncbi.nlm.nih.gov] Werner syndrome is a rare autosomal recessive disorder characterized by clinical signs of premature aging, short stature, scleroderma-like skin changes, endocrine abnormalities[ncbi.nlm.nih.gov]

    Missing: Large Anterior Fontanel at Birth
  • Hydrocephalus

    It can also be used after birth while the anterior fontanelle remains open. MRI This test uses large magnets, radio waves, and a computer.[cedars-sinai.org] Enlargement of the third ventricle can lead to precocious puberty and short stature.[lecturio.com] Hydrocephalus is also a frequent component of skeletal dysplasias and craniosynostosis syndromes in which there is a disparity between brain size and skull size.[neuropathology-web.org]

    Missing: Juvenile Familial Leg Ulcers

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