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723 Possible Causes for Round Face, Short Finger

  • Pseudohypoparathyroidism

    PHP1a The constellation of PHP1a, also referred to as AHO, consists of short stature, round face, obesity, brachydactyly, brachymetacarpia, soft tissue ossification, dental[] fingers.[] The condition causes short stature, round face, obesity, developmental delay, and short hand bones.[]

  • Mucopolysaccharidosis 2

    […] 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[] Children usually develop joint contractures (stiff joints), kyphosis (a "hunchback" curve of the spine), and broad hands with short fingers.[] […] bones are also affected, with these children usually developing joint contractures (stiff joints), kyphosis (a specific type of curve to the spine), and broad hands with short[]

  • Mucopolysaccharidosis

    […] wide nostrils Thick, tough skin Short, broad hands with curving fingers Knock-knees and walking on toes Curved spine Continued MPS I can show up in a lot of different ways[] They also tend to look similar: Shorter than average, with stocky build Large head, bulging forehead Thick lips, widely spaced teeth, and large tongue Short, flat nose with[]

  • 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.[] 5th finger Short fifth finger Short fifth fingers Short little finger Short pinkie finger Short pinky finger [ more ] 0009237 Short nose Decreased length of nose Shortened[] face with widow's peak and, in one of them, ptosis of the eyelids.[]

  • Pseudopseudohypoparathyroidism

    She also exhibited a short stature, round face and brachydactyly with shortening of the metacarpal and metatarsal bones.[] Short fingers or toes 0001156 Cataract Clouding of the lens of the eye Cloudy lens [4] Last updated: 7/11/2016 Testing Resources The Genetic Testing Registry (GTR) provides[] […] resistance; Pseudopseudo-Hypoparathyroidism; Pseudo-Pseudohypoparathyroidism See More Categories: Pseudopseudohypoparathyroidism (PPHP) is an inherited condition that causes short[]

  • Pseudohypoparathyroidism Type 1A

    In children aged 2 years, the commonest clinical features were round lunar face, obesity (70%), and subcutaneous ossifications (60%).[] finger Stubby finger Stubby fingers [ more ] 0009381 Short metacarpal Shortened long bone of hand 0010049 Short metatarsal Short long bone of foot 0010743 Short toe Short[] He also had congenital hypothyroidism, round face, full cheeks, shortness of limbs, mild developmental delay, and muscular hypotonia.[]

  • Trisomy 12p

    fingers, single transverse crease in the right hand, and hypotonia.[] Tre' was born with an inguinal hernia, missing nasal bridge bone, genital anomalies, short eyelids, an extra finger, tightness of limbs, and a short frame body.[] These may include abnormally long, slender fingers (arachnodactyly); short first toes; or deformities in which the feet are abnormally twisted out of position or shape (clubfeet[]

  • Chromosome 18p Deletion Syndrome

    […] symptoms listed below: * Growth retardation * Mental retardation * Reduced muscle tone * Small head * Drooping eyelids * Epicanthal folds * Low nasal bridge * Wide-set eyes * Round[] Limb malformations may also be present, such as relatively small hands and feet; short fingers; abnormal deviation of the “pinkies” or fifth fingers (clinodactyly); and/or[] The main clinical manifestations are mental retardation, growth retardation, craniofacial dysmorphism including round face, dysplastic ears, wide mouth and dental anomalies[]

  • Achondroplasia

    face discussion; 3) edit the list and rate it in a second round.[] ; fingers are stubby Average adult height is about 4 feet tall Achondroplasia 1.[] In those afflicted with the disorder, the limbs are very short (fingers reach only to the hips), but the trunk is almost normal in size.[]

  • Spondyloepiphyseal Dysplasia Type Cantú

    : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[] […] foot Short feet Small feet [ more ] 0001773 Short metacarpal Shortened long bone of hand 0010049 Short palm 0004279 Short phalanx of finger Short finger bones 0009803 Short[] […] and broad, and there was metacarpal shortness of right 3rd and 4th fingers.[]

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