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81 Possible Causes for Microphallus, Retrognathia, Short Neck

  • Moebius Syndrome

    He was noted to have micrognathia, retrognathia, wide nasal bridge, low set ears, high arched palate, nonreducing bilateral talipes equinovarus and bilateral large angle esotropia[ncbi.nlm.nih.gov] neck Decreased length of neck 0000470 Short phalanx of finger Short finger bones 0009803 Split hand Claw hand Claw hand deformities Claw hands Claw-hand deformities Split-hand[rarediseases.info.nih.gov] If the infant is not closing down properly, the lower jaws become more noticeably deficient ( micrognathia or retrognathia ).[en.wikipedia.org]

  • Camptodactyly Syndrome Type Guadalajara III

    Other clinical manifestations included: multiple nevi, simplified ears, retrognathia, congenital shortness of the sternocleidomastoid muscle, thin hands and feet, a small[insights.ovid.com] neck Decreased length of neck 0000470 Small hypothenar eminence 0010487 Small thenar eminence 0001245 Spina bifida occulta 0003298 Symblepharon Eyelid stuck to eyeball 0430007[rarediseases.info.nih.gov] […] agenesis Tracheoesophageal fistula Anophthalmia Abnormal form of the vertebral bodies Encephalocele Abnormal vertebral morphology Encephalopathy Renal hypoplasia Hypospadias Retrognathia[mendelian.co]

  • Schinzel-Giedion Syndrome

    […] toes [ more ] 0001845 Pulmonary hypoplasia Small lung Underdeveloped lung [ more ] 0002089 Respiratory distress Breathing difficulties Difficulty breathing [ more ] 0002098 Retrognathia[rarediseases.info.nih.gov] , and a short neck.[ncbi.nlm.nih.gov] Skeletal and limb defects, choanal stenosis, simian creases, hypospadias, microphallus, hypertrichosis, and intractable seizures are the frequently associated clinical findings[chikd.org]

  • Jacobsen Syndrome

    Anesthetic issues related to the care of patients with JS concern airway management secondary to short neck, abnormal mouth shape and micrognathia/retrognathia, a high incidence[jhu.pure.elsevier.com] A woman with psychomotor developmental delay, congenital glaucoma, and distinctive facial features, and a short neck was diagnosed with Jacobsen syndrome (JBS) at age 40 years[ncbi.nlm.nih.gov] Holoprosencephaly, ear abnormalities, congenital heart defect and microphallus in a patient with 11q- mosaicism.[ncbi.nlm.nih.gov]

  • CHARGE Syndrome

    In addition to these typical features, airway abnormalities, including retrognathia, glossoptosis, and laryngeal paralysis, have been reported in patients with this syndrome[ncbi.nlm.nih.gov] neck Image of Sloping Shoulders Common Limb/Skeletal Absent thumb, extra fingers, vertebral abnormalities ?[chargesyndrome.org] Abnormalities of genitalia in males include an underdeveloped penis (micropenis or microphallus) and testicles that fail to descend to the scrotum (cryptorchidism).[encyclopedia.com]

  • LEOPARD Syndrome

    At the age of four years additional features noticed included prominent upper lip, anti-mongoloid slant of palpebral fissures, high arched palate, retrognathia, epicanthic[jpgmonline.com] neck Decreased length of neck 0000470 Short stature Decreased body height Small stature [ more ] 0004322 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Subvalvular[rarediseases.info.nih.gov] […] ears with thick helices, micrognathia, short neck with excessive nuchal skin and widely spaced nipples were observed ( Figure 1a ).[nature.com]

  • Warburg Micro Syndrome 3

    On the other hand, younger one did not have forehead hypertrichosis, retrognathia, or philtrum changes.[pediatricneurosciences.com] […] stature 0004322 Postnatal failure to thrive 0001508 Growth hormone deficiency 0000824 NR NR NR Head and neck Postnatal microcephaly 0000252 ( ) Micrognathia 0000347 - - -[ojrd.biomedcentral.com] He had microphallus, scrotal hypoplasia and atrophic testes. He had axial hypotonia and the deep tendon reflexes were brisk. There was no organomegaly.[iamg.in]

  • Fraser Syndrome

    Retrognathia Gene Studies Currently, there are three known gene mutations which result in BOR syndrome.[medicine.uiowa.edu] Twenty-five (21.4%) subjects had hypertelorism or pseudohypertelorism, 11/117 (9.4%) had micrognathia, 8/117 (6.8%) had microstomia, and 8/117 (6.8%) had a short neck.[jmg.bmj.com]

  • Multiple Congenital Anomalies

    […] with open posterior fontanelle, prominent occiput, triangular face, high forehead, hypertelorism, down slanting eyes, flat nasal bridge, small nose, low set ears, micro-retrognathia[ncbi.nlm.nih.gov] […] fissures, bulbous nose, wide nasal bridge, high arched palate, low-set and posteriorly rotated ears, micrognathia, short neck, ptosis, patient ductus arteriosus, hypoplastic[ncbi.nlm.nih.gov] The patient presented with severe hypotonia, microphallus and left cryptorchidism, and was later diagnosed with epilepsy and severe cortical visual impairment.[ncbi.nlm.nih.gov]

  • Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome

    […] cardiomyopathy) but with additional findings that included a narrow chest, sloping shoulders, aged appearance of the hands and feet and facial dysmorphism (beaked nose and severe retrognathia[orpha.net] […] stature, webbing of the neck [such as pterygium colli], a highly arched palate, short fourth metacarpals, widely spaced nipples, or multiple pigmented nevi) See Clinical[emedicine.medscape.com] Genital examination revealed underdeveloped scrotum, microphallus and bilateral cryptorchidism. Gender dysphoria was absent.[bmcendocrdisord.biomedcentral.com]

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