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

    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[] Systemic Features: Mental retardation, hypotonia, short stature, and developmental delays are common. Seizures and behavior problems are seen in older children.[] Other clinical manifestations include facial dysmorphism (frontal bossing, deep-set eyes, chubby cheeks, fair complexion), destructive teno-synovitis in older patients, short[]

    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.[] short stature ( Q77.4 ) hypochondroplastic short stature ( Q77.4 ) nutritional short stature ( E45 ) pituitary short stature ( E23.0 ) progeria ( E34.8 ) renal short stature[] […] of skeletal dysplasias and dysostoses ...[]

    Missing: Juvenile Familial Leg Ulcers
  • Progeroid Syndrome Type Petty

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

  • 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[] We describe a child with short stature of prenatal onset, rhizomelic limb shortness affecting the upper limbs particularly, and an unusual face.[] It is characterized by short stature, limb shortening, genital hypoplasia, and craniofacial abnormalities.[]

    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,[] Patients have premature aging aspect, short stature and a poorly muscled build.[] , and lipids and hormone metabolism. [7] Affected individuals exhibit intrauterine and postnatal growth retardation, leading to short stature and an aged appearance from birth[]

    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[] Short stature is common and the joints may have limited motion.[] 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[]

    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[] stature, facial Multiple malformation syndrome, small stature, without skeletal dysplasia MVRCS association Nail-patella syndrome Nance-Horan syndrome Neu-Laxova syndrome[] stature, facial Multiple malformation syndrome, small stature, without skeletal dysplasia MVRCS association Myhre syndrome Nail-patella syndrome Nance-Horan syndrome Neu-Laxova[]

    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[] Neuropathy or familial leg ulcers of juvenile onset.[] Werner syndrome is a rare autosomal recessive disorder characterized by clinical signs of premature aging, short stature, scleroderma-like skin changes, endocrine abnormalities[]

    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.[] Enlargement of the third ventricle can lead to precocious puberty and short stature.[] Hydrocephalus is also a frequent component of skeletal dysplasias and craniosynostosis syndromes in which there is a disparity between brain size and skull size.[]

    Missing: Juvenile Familial Leg Ulcers

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