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278 Possible Causes for Broad Nasal Bridge, Coarse Facial Features

  • Mucopolysaccharidosis

    facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[] The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with[] He did not develop coarse facial features, joint disease, or organomegaly, and his cardiac function remained normal.[]

  • Mucopolysaccharidosis 2

    Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[] There are some obvious physical signs of Hunter syndrome, such as coarse facial features and an enlarged liver and spleen, as well as some less noticeable symptoms. 2 Symptoms[] Figure 1: shows Coarse facial features with depressed nasal bridge, a short neck, long philtrum.[]

  • Pallister-Killian Syndrome

    nasal bridge, short nose with upturned nares, large mouth with downturned corners and prominent upper lip.[] facial features, and pigmentary abnormalities.[] PKS has the following characteristics: low muscle tone facial features that are common to the syndrome-high forehead, broad nasal bridge, wide space between the eyes sparse[]

  • Mucopolysaccharidosis 1

    Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[] facial features Communicating hydrocephalus (fluid on the brain) Abnormally shaped teeth Life expectancy Life expectancy varies significantly for people with MPS I.[] Patients may also have coarse facial features, although this is usually milder than that seen in MPSI or MPSII.[]

  • Mucopolysaccharidosis 6

    Presentation Patient with coarse facial features, cardiac murmure, gibbus and dental decay.[] Physical Facial features associated with MPS VI include the following: Coarse facial features (Compare the facial features with those of other family members to best appreciate[] Common symptoms of Maroteaux-Lamy syndrome include: Clouding of the cornea, vision loss Coarse facial features Skeletal and muscular deformities, which can be acute Abnormalities[]

  • Hypertrichotic Osteochondrodysplasia

    Clinical description Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted[] […] of head or neck Anteverted nares Coarse facial features Curly eyelashes Epicanthus Large sella turcica Long philtrum Low anterior hairline Low posterior hairline Macrocephaly[] Some features are suggestive of a storage disorder, including macrocephaly and coarse facial features, with a broad nasal bridge, epicanthal folds, wide mouth, and full lips[]

  • Simpson Dysmorphia Syndrome

    Characteristic dysmorphic features include macrocephaly with coarse, distinctive facies with a large protruding jaw, broad nasal bridge and cleft palate.[] facial features, widely spaced eyes, a short nose with anteverted nares, gingival overgrowth, a wide mouth, short limbs with short distal phalanges, and a small penis.[] An X-linked dysmorphia complex [MIM 312870] which is characterised by a large, square protruding jaw, a broad nasal bridge, an upturned nose tip, and macroglossia, resulting[]

  • Pitt-Hopkins Syndrome

    nasal bridge, down-turned nasal tip and flaring nostrils, typical shape of the mouth, with a tented and M shaped upper lip, and widely spaced teeth.[] In this article, we describe two sibs, a brother and sister, with severe mental retardation and multiple congenital anomalies including "coarse" facial features, short stature[] coarse face, a broad nasal bridge and a wide mouth, and hyperventilation attacks.[]

  • Mucopolysaccharidosis 1H

    bridge with broad nasal tip and anteverted nostrils, full cheeks and enlarged lips), cardiomyopathy and valvular abnormalities, neurosensorial hearing loss, enlarged tonsils[] […] hairy skin all over the body, a tuft of hair in the parietal region, coarse facial features and a prominent forehead with a large tongue, hepatosplenomegaly and skeletal[] facial features with low nasal bridge Signs and tests [ edit ] Genetic testing for the alpha-L-iduronidase (IDUA) gene Urine tests for extra mucopolysaccharides X-ray of[]

  • Coffin-Lowry Syndrome

    nasal bridge having thick cartilage (septum) Thick prominent lips with prominent chin and underdeveloped upper jaw Prominent ears Small head Dental anomalies Abnormalities[] Cof·fin-Low·ry syn·drome ( kof'ĭn low'rē ), [MIM*303600] characterized by coarse facial features with bulbous nose, large ears, and thick lips; short stature; tapered fingers[] facial features Coarse facial appearance 0000280 Craniofacial hyperostosis Excessive bone growth of the skull and face 0004493 Delayed skeletal maturation Delayed bone maturation[]

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