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13 Possible Causes for low set, Malformed Ears, Short Stature - Postnatal Onset

  • Noonan Syndrome

    This condition is associated with short stature, heart defects, bleeding disorders, delayed puberty, and skeletal malformations.[] […] nipples, undescended testicles, abnormal facial characteristics (e.g., bright blue or green colored iris, wide-spaced eyes, low-set fleshy ears).[] It is characterized by postnatal-onset short stature, characteristic facial changes, webbed neck, pectus carinatum, or excavatum, congenital heart defects, and bleeding abnormalities[]

  • Schwartz-Jampel Syndrome

    […] of bones of the vertebrae and ribs; and Goldenhar syndrome , a disorder that involves malformations of the eyes, ears and spine.[] […] anterior hairline Low frontal hairline Low-set frontal hairline [ more ] 0000294 Malignant hyperthermia 0002047 Microcephaly Abnormally small skull Decreased circumference[] The children display facial dysmorphism (a small forehead, a flat base of the nose, a receding chin, an irregular order of the teeth, low-set ears, a high-arched palate, low[]

  • Baraitser-Winter Syndrome 1

    Only a few of them only had imaging of the inner ear, which demonstrated cochlear malformations in one case.[] The ears are low-set and the skull may be somewhat misshapen. The hairline in the back of the skull is unusually low. Imaging of the brain reveals multiple deformities.[] Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss. {ECO:0000269 PubMed:22366783}.[]

  • Wolf Hirschhorn Syndrome

    Other common findings include small head (microcephaly); eye differences (turning in or out of the eyes, droopy eyelids, eye malformations); ear differences (small, simple[] […] dolichocephaly; high forehead; large rectangular nose continuing to the eyebrows; hypertelorism; short philtrum; carp-shaped mouth; microretrognathia; and large, simply modeled, low-set[] Short stature and slow weight gain is common postnatally. Central nervous system Neurologic concerns are common and include the following.[]

  • Bruck Syndrome

    The most common features of this condition are an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect[] A syndrome characterized by growth retardation, severe mental retardation, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth,[] Get Update Overview Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe[]

  • Cole-Carpenter Syndrome

    , choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association Congenital absence of heart structure Congenital anomaly[] The facial features are said to be distinctive with midface hypoplasia, low-set ears, micrognathia, and, of course, prominent globes.[] At 7 years of age he had moderately reduced bone mineral density, macrocephaly of postnatal onset, and short stature, with facial features reminiscent of Cole-Carpenter syndrome[]

  • Hypochondroplasia

    The main features of LADD syndrome are abnormal tear production, malformed ears with hearing loss, decreased saliva production, small teeth, and hand deformities.[] […] muscle attachment, normal growth plate, prominent styloid process of the ulna and lateral malleolus of the fibula, shortened base of the iliac bones, horizontal hypoplastic low-set[] Hypochondroplasia is an autosomal dominant skeletal dysplasia expressing postnatal onset of short stature with mild rhizomelic shortening of the limbs.[]

  • Boomerang Dysplasia

    Conductive deafness, often with malformation of the ossicles of the middle ear, was observed in four of 19 probands (21%) [ Bicknell et al 2007 ].[] set ears Better vertebrae ossification, uniformed ossified fibula, metacarpals and phalanges FLNB AD Boomerang dysplasia (# 112310) Hypertelorism, flat nose, hypoplastic[] stature becomes evident postnatally.[]

  • Widow's Peak Syndrome

    Malar hypoplasia Clefted zygomatic Absent lower eyelashes Malformed auricles External ear canal defects Vision issues Cleft palate. Scalp hair on cheek.[] A syndrome encompassing postnatal onset of short stature, widow's peak, ptosis, posteriorly angulated ears, and limitation of forearm supination is reported in a boy and his[] […] of the external ears, teeth (unerupted and dysplastic teeth), kidneys (renal agenesis, nephrosclerosis) and ditory system (malformation of the auricles (auricular dysplasia[]

  • Progeroid Syndrome Type Petty

    Auricular malformation Deformed ears Malformed ears Simple ears [ more ] 0000377 Absent distal phalanges Absent outermost digital bones 0005807 Absent nipple Absent nipples[] Diseases related with Low-set ears and Broad forehead In the following list you will find some of the most common rare diseases related to Low-set ears and Broad forehead[] As in HGP, there is a postnatal-onset short stature and progressive stiffness of joints.[]