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338 Possible Causes for Delayed Growth and Development, Round Face

  • Pseudohypoparathyroidism

    The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation.[] […] few months of life and full expression before the end of infancy), hypogonadism, growth hormone (GH) deficiency and cognitive impairment, including developmental delay and[] PHP1a The constellation of PHP1a, also referred to as AHO, consists of short stature, round face, obesity, brachydactyly, brachymetacarpia, soft tissue ossification, dental[]

  • Mucopolysaccharidosis

    MPS VI is an autosomal recessive disorder which occurs due to the deficiency of N-acetyl galactosamine-4-sulfatase (Arylsulfatase B - ARSB) involved in catabolism of dermatan sulfate resulting from disease-causing variations in the ARSB gene. Human Gene Mutation Database (HGMD) search revealed 200 different[…][]

  • Mucopolysaccharidosis 2

    Skeletal irregularities, vision problems, heart problems, diarrhea, joint stiffness, stunted growth and delayed development may be present.[] […] on the skin Enlarged internal organs Distended abdomen Diarrhea Delayed development (for example, child does not meet normal development such as talking or normal motor skills[] Symptoms may not present at birth, but frequently appear in early childhood and may include delayed development, enlarged internal organs, heart conditions, stunted growth[]

  • Cushing's Disease

    A 39-year-old woman with a 3-year history of a rounded face developed widespread myalgia.[] Weak bones Extra fat around neck Acne Round face Balding (women) Fatigue Hip and shoulder weakness Poor concentration Swelling of feet/legs Menstrual irregularity Diabetes[] They can include: a round face a fatty hump between the shoulders and neck weight gain growth problems red or purple stretch marks thin skin that bruises easily tiredness[]

  • Aarskog Syndrome

    Complications of Aarskog Syndrome include: Delayed growth and development in infants Cystic changes in the brain Difficulty chewing the food, due to a set of improperly aligned[] face with widow's peak and, in one of them, ptosis of the eyelids.[] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[]

  • Glycogen Storage Disease Type 6

    Phenotype and clinics Patients have poor tolerance to fasting (with hypoglycemia and hyperlactacidemia after 3 to 4 hours of fasting), marked hepatomegaly, full-cheeked round[] Glycogen Storage Disease Ia [G6PC]: Biochemical abnormalities such as very low glucose level leading to delayed growth/development presenting in infancy.[] If left untreated, affected individuals may have delayed attainment of motor developmental milestones, and skeletal abnormalities exemplified by continued growth retardation[]

  • Barth Syndrome

    face with full cheeks, broad forehead, prominent chin, large ears and deep-set eyes What are the causes of Barth syndrome?[] This rare X-linked genetic disease is characterised by cardiomyopathy, growth delay, muscle hypoplasia, neutropenia and extreme fatigue.[] Common signs and symptoms include; distinctive facial features with a round face and full cheeks, large ears, deep-set eyes, big chin, heart muscle weakness which presents[]

  • Prader-Willi Syndrome

    This phase is marked mainly by mental subnormality, delayed growth and motor development, speech defect, lack of emotional control, voracious appetite leading to obesity,[] (Menkes, Textbook of Child Neurology, 5th ed, p229) Definition (CSP) congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting[] Some characteristics of this condition include weak muscle tone, poor growth, and delayed development.[]

  • Schwartz-Jampel Syndrome

    […] back [ more ] 0002808 Mask-like facies Expressionless face Lack of facial expression Mask-like facial appearance [ more ] 0000298 Micrognathia Little lower jaw Small jaw[] (bone dysplasia); permanent bending or extension of certain joints in a fixed position (joint contractures); and/or growth delays resulting in abnormally short stature (dwarfism[] […] or extension of certain joints in a fixed position, and/or growth delays resulting in short stature, according to the National Organization for Rare Disorders (NORD).[]

  • Neuhauser Syndrome

    Affected individuals have a delay in development of the typical signs of puberty, such as the growth of facial hair and deepening of the voice in males, and the start of monthly[] The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[] Facial features included a round face, low frontal hairline, mild frontal bossing, broad nasal bridge, large corneas, mild hypertelorism, long upper lip, high palate, and[]

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