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309 Possible Causes for Delayed Bone Age, Macrocephaly, Round Face

  • Mucopolysaccharidosis

    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] Macrocephaly develops during infancy and infants initially grow at normal or above average rates.[orpha.net]

  • Aarskog-Scott Syndrome

    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] The main findings are asynchronic and delayed bone age, shortened long tubular bones with wide metaphyses, brachyphalangy, hypoplasia of the middle phalanges of the fifth[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]

  • Zellweger Syndrome

    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] Macrocephaly or microcephaly, a high-arched palate, protruding tongue or micrognathia, and redundant neck skin folds may be present.[ela-asso.com]

  • Mucopolysaccharidosis 1

    , angulation of the distal end of the radius and ulna, narrowing of the proximal metacarpals, delayed carpal bone age, and hip abnormalities as a constriction above the acetabulum[scielo.br] 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]

  • Neuhauser Syndrome

    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] The radiological bone age was found to be delayed.[cags.org.ae] We report two sisters with Neuhäuser [megalocornea, macrocephaly, mental and motor retardation MMMM] syndrome.[ncbi.nlm.nih.gov]

  • Hypertrichotic Osteochondrodysplasia

    face-developmental delay syndrome Congenital joint dislocations Congenital knee dislocation Congenital limb malformation Congenital muscular dystrophy with cerebellar involvement[se-atlas.de] bone age; [Skull]; Widened posterior fossa; Enlarged sella; [Spine]; Platyspondyly; Ovoid-shaped vertebral bodies (childhood); Cuboid-shaped vertebral bodies (post-puberty[genome.jp] Clinical description Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted[orpha.net]

  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    face-developmental delay syndrome Congenital joint dislocations Congenital knee dislocation Congenital limb malformation Congenital muscular dystrophy with cerebellar involvement[se-atlas.de] bone age.[ncbi.nlm.nih.gov] […] spondyloepimetaphyseal dysplasia disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative macrocephaly[orpha.net]

  • Sotos Syndrome

    Infants have a round face with prominent forehead and small chin.[encyclopedia.com] The phenotype includes delayed bone age, microcephaly, seizures, and failure to thrive.[ncbi.nlm.nih.gov] Of 261 children with global developmental delay, 18 (7%) had documented macrocephaly.[ncbi.nlm.nih.gov]

  • Lenz-Majewski Syndrome

    , bluish discoloration of the whites of the eyes (blue sclera), and a triangular-shaped face with a prematurely-aged appearance.[rarediseases.org] Tooth development was delayed. The LENZ-MAJEWSKI SYNDROME 607 Fig. 1. (A) Patient age 51/2 months.[docksci.com] Affiliated tissues include bone , skin and tongue , and related phenotypes are macrocephaly and hypertelorism OMIM : 57 Lenz-Majewski hyperostotic dwarfism is a rare condition[malacards.org]

  • Iatrogenic Cushing's Disease

    Essential finding at presentation were an obese infant, full round face, length 62cm ( 5 th percentile), BMI 36.7kg/m 2 ( 95 th percentile); BP 100/60mmHg.[panafrican-med-journal.com] The indica ted treatment was topical with hydrocortisone acetate and delayed bone age (BA) (6 months BA for 1 year 3 months in chronological age).[scielo.conicyt.cl] Initial evaluation on arrival revealed multiple congenital anomalies including solitary kidney, atrial septal defect of the heart, rib anomalies, macrocephaly, developmental[omicsonline.org]

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