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428 Possible Causes for Enlargement of the Spleen, Macrocephaly, Round Face

  • Mucopolysaccharidosis 2

    Individuals with this disorder may experience the following signs: abnormal retina, heart murmur and leaky heart valves, enlarged liver (hepatomegaly) enlarged spleen (splenomegaly[secure.ssa.gov] […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov] Macrocephaly develops during infancy and infants initially grow at normal or above average rates.[orpha.net]

  • Mucopolysaccharidosis 1

    […] liver and spleen Hernia (inguinal or umbilical) Hearing loss Delayed mental development Coarse facial features Communicating hydrocephalus (fluid on the brain) Abnormally[mps1disease.com] Symptoms include, macrocephaly, excessive accumulation of fluid in the brain, hepatosplenomegaly, sleep apnea, cornea clouding, spinal cord compression and cognitive impairment[raredr.com] Some symptoms (hernia, macrocephaly, respiratory infections, and limited hip abduction) become apparent early in infancy but the complete clinical picture develops during[icd10data.com]

  • Mucopolysaccharidosis

    […] tongue), corneal clouding, hearing loss, heart problems, an enlarged liver and spleen, hernias, chronic nasal congestion and ear infections.[luriechildrens.org] The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with[ncbi.nlm.nih.gov] Hirsutism, macrocephaly, and limited joint movements. Four types, each with a different enzyme deficiency, are recognized: a, b, c and d.[icd9data.com]

  • Neuhauser Syndrome

    […] hyperandrogenism: polycystic ovary syndrome, gynecomastia, macropenis or hypertophy of the clitoris - excessive growth of some organs: hypertrophic cardiomyopathy, hepatomegaly, splenomegaly[sites.uclouvain.be] The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[ncbi.nlm.nih.gov] We report two sisters with Neuhäuser [megalocornea, macrocephaly, mental and motor retardation MMMM] syndrome.[ncbi.nlm.nih.gov]

  • Zellweger Syndrome

    […] liver or spleen; and liver disease from an unknown cause. 2,7,8,9 It is important to diagnose and treat BASD as early as possible, since untreated patients may develop serious[retrophin.com] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[rarediseases.info.nih.gov] Macrocephaly or microcephaly, high arched palate, micrognathia and redundant neck skin folds may be present.[orpha.net]

  • Aarskog-Scott Syndrome

    The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the[checkrare.com] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[ncbi.nlm.nih.gov] Abstract The Aarskog syndrome or facio-genital dysplasia (FGDY, MIM No. 305400) is an X-linked condition characterized by short stature, macrocephaly, facial, genital and[ncbi.nlm.nih.gov]

  • Weaver Syndrome

    This immune response results in death and is characterized by fever, splenomegaly, hemophagocytosis, hypertriglyceridemia, and hypofibrinogenemia.[emedicine.medscape.com] , round face, abnormal positioning of the jaw, and a prominent chin with a central dimple.[medindia.net] A boy with primordial overgrowth, macrocephaly, and anomalies of the face, nails, feet and skeleton is reported.[ncbi.nlm.nih.gov]

  • Simpson Dysmorphia Syndrome

    Simpson-Golabi-Behmel syndrome can also cause heart defects, malformed or abnormally large kidneys, an enlarged liver and spleen (hepatosplenomegaly), and skeletal abnormalities[ghr.nlm.nih.gov] , round face, hypoplastic supraorbital ridge, epicanthus, cleft palate TM Diastrophic dysplasia sulfate transporter DTDST 5q32-q33.1 222600 Diastrophic dysplasia 222600 AR[widesmiles2.org] We report on 2 brothers with overgrowth, macrocephaly, polydactyly, supernumerary nipples, and characteristic facial appearance.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Spastic Paraplegia Type 49

    Glycogen Storage Disease, Type 4 often causes symptoms in infancy with poor feeding and growth (failure to thrive), an enlarged liver and spleen, enlarged heart, low muscle[natera.com] This HSP is characterized by early onset of spastic paraplegia, motor development delaying, mental retardation, dysmorphic features (short stature, round face, low anterior[intechopen.com] […] hypophosphatemia Hemoglobin E disease Pfeiffer Mayer syndrome Thumb deformity Multiple pterygium syndrome lethal type Dandy-Walker malformation with mental retardation, macrocephaly[checkrare.com]

  • Legius Syndrome

    In very rare cases, the liver and spleen may be enlarged. The syndrome is also associated with characteristic facial features.[socialstyrelsen.se] [Brenk et al 2007] proposed round face to map to the distal 1.6 Mb of 18p, and post-natal growth retardation and seizures to the distal 8 Mb.[healthdocbox.com] Autosomal dominant disorder Legius syndrome (NF1- like syndrome) shows phenotype features that overlap with neurofibromatosis type 1 (NF1), such as CALMs, freckling, macrocephaly[ncbi.nlm.nih.gov]

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