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201 Possible Causes for Macrocephaly, Round Face, Short Extremities

  • Mucopolysaccharidosis

    It is marked by shortness and hyperextension of the neck causing the head to appear as if it were resting directly on the shoulders, short trunk, long extremities with excessive[icd9data.com] 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] Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1

    Symptoms include, macrocephaly, excessive accumulation of fluid in the brain, hepatosplenomegaly, sleep apnea, cornea clouding, spinal cord compression and cognitive impairment[raredr.com] Patients present with short stature, flat nasal bridge, and joint findings. Urine GAGs are normal in MPS IX.[neurology.testcatalog.org] Some symptoms (hernia, macrocephaly, respiratory infections, and limited hip abduction) become apparent early in infancy but the complete clinical picture develops during[icd10data.com]

  • Pseudohypoparathyroidism

    The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation.[ncbi.nlm.nih.gov] Obesity, particularly early-onset obesity, and macrocephaly relative to height might be part of AHO 26, 27, 28.[doi.org] The condition is extremely rare, with an estimated overall prevalence of 7.2/1,000,000 or approximately 1/140,000.[en.wikipedia.org]

  • Achondroplasia

    […] of short extremities, a large head, and trident-shaped hands. • Achondroplasia is an autosomal dominant disorder caused by mutations in fibroblast growth factor receptor[medlink.com] face discussion; 3) edit the list and rate it in a second round.[ncbi.nlm.nih.gov] Achondroplasia is an autosomal dominant disease which is characterized by limb shortening and narrow trunk, and macrocephaly.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 2

    Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov] The skin may also show hypertrichosis and excessive Mongolian spots. [ 6 ] Other features Macrocephaly - common with a short trunk length compared to the extremities.[patient.info] Macrocephaly develops during infancy and infants initially grow at normal or above average rates.[orpha.net]

  • Neuhauser Syndrome

    The elder sister (index patient 1) had enopthalmous, strabismus, a thin upper lip and short stature 155cm.[epostersonline.com] 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]

  • Osteogenesis Imperfecta

    Abstract Osteogenesis imperfecta is a congenital disorder resulting in multiple fractures and extremely short stature, usually necessitating cesarean delivery.[ncbi.nlm.nih.gov] faces cases of OI type VIII are similar to OI types II or III in appearance and symptoms except for white sclerae Additional forms of OI The following conditions are rare[radiopaedia.org] The clinical phenotypes of this OI included recurrent fractures, low bone mass, macrocephaly, blue sclera and failure to thrive.[ncbi.nlm.nih.gov]

  • Aarskog Syndrome

    Findings on the extremities include joint hyperextensibility, short and broad hands, interdigital webbing, a short fifth finger, clinodactyly and broad feet with bulbous toes[ncbi.nlm.nih.gov] face with widow's peak and, in one of them, ptosis of the eyelids.[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]

  • Spondyloepiphyseal Dysplasia, Cantu Type

    : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[malacards.org] Am J Med Genet. 1996;64(3):447-52 Mental retardation, macrocephaly, short stature and craniofacial dysmorphism 0 *Dwarfism *Intellectual Disability *Macrocephaly.[reference.md] May 1, 2017 By Acromicric dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation[checkrare.com]

  • Kniest Dysplasia

    The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. ( 3 ) References: GARD:6841 MESH:C537207 OMIM:156550 Ontology: Human Disease[zfin.org] The patient displayed macrocephaly with increased size of the neurocranium in all three dimensions.[ncbi.nlm.nih.gov] Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss.[ncbi.nlm.nih.gov]

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