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27 Possible Causes for Retrognathia, Short Neck, Umbilical Plaque

  • Baraitser-Winter Syndrome 1

    There is retrognathia, a pointed chin, a wide mouth with downturned corners and an everted lower lip, which may be secondary to retrognathia (17/39–44%).[ncbi.nlm.nih.gov] In addition, the phenotype includes dwarfism with short neck and heart malformations.[pediatricneurosciences.com] High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ] 0002553 Microphthalmia Abnormally small eyeball 0000568 Oral cleft Cleft of the mouth 0000202 Retrognathia[rarediseases.info.nih.gov]

  • Kniest Dysplasia

    The mandibular retrognathia was pronounced at an early age but improved with growth. At age 11 years the patient had a straight facial skeletal profile.[ncbi.nlm.nih.gov] Manifestations included neonatal respiratory distress, large head, midface hypoplasia, flat nasal bridge, short nose, micrognathia, cleft palate, short neck, micromelia, and[ncbi.nlm.nih.gov] Note severe micrognathia/retrognathia with cleft palate, apparently low-set and malformed ears, small and narrow chest, protuberant abdomen with omphalocele, and short and[emedicine.medscape.com]

  • Costello Syndrome

    Other clinical features included ptosis, telecanthus, posteriorly rotated ears, deviated nasal septum, dental crowding, retrognathia, slightly large appearing hands without[journals.plos.org] Of primary concern to anaesthesiologists are potential airway difficulties related a short neck, macroglossia, hypertrophied tonsillar and supraglottic tissues, laryngeal[ncbi.nlm.nih.gov] His clinical findings were sparse, thin, and light-colored hair, bilateral ptosis, low-set ears, depressed nasal bridge, bulbous nose, short neck, loose pigmented skin with[ncbi.nlm.nih.gov]

  • Hypertrichotic Osteochondrodysplasia

    Micromelia Narrow chest Arrhythmia Finger syndactyly Short finger Abnormality of the metaphysis Gingival overgrowth Ptosis Failure to thrive X-linked recessive inheritance Retrognathia[mendelian.co] The female patient had a short neck, narrow thorax, and generalized hypertrichosis.[genome.jp] […] distal phalanx of finger Short outermost finger bone 0009882 Short hallux Short big toe 0010109 Short neck Decreased length of neck 0000470 Skeletal dysplasia 0002652 Umbilical[rarediseases.info.nih.gov]

  • Weaver Syndrome

    Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability[monarchinitiative.org] The prime anesthetic problem reported in children with Weaver syndrome is difficulty with tracheal intubation, resulting in part from relative micrognathia, short neck, and[ncbi.nlm.nih.gov] Cranial abnormalities, such as macrocephaly, and several characteristic features of the face (retrognathia, a broad forehead, round facies, large ears, and very wide eyes)[symptoma.com]

  • Achondrogenesis

    Hydrops fetalis and some facial features as retrognathia also have been reported as associated abnormalities.[apjr.net] Abstract We describe two dwarfed infants with large head, short neck and chest, prominent abdomen, and short limbs. Both died neonatally.[ncbi.nlm.nih.gov] Prenatal ultrasonography at 22-weeks gestation revealed a fetus with large head, short neck and chest, prominent abdomen and short limbs. Pregnancy was terminated.[ncbi.nlm.nih.gov]

  • Trisomy 18

    Note microphthalmia, micrognathia/retrognathia, microstomia, low set/malformed ears, short sternum, and abnormal clenched fingers.[web.archive.org] neck, and wrist deformity.[ncbi.nlm.nih.gov] There is also short neck, excessive skin folds and marked hypotonia.[symptoma.com]

  • Simpson Dysmorphia Syndrome

    Commonly seen anomalies in SGBS which can lead to airway problems include macroglossia, cleft lip and palate, retrognathia and short neck.[oatext.com] Anticipating a difficult airway due to macroglossia and a short neck, sevoflurane-fentanyl anesthesia without a neuromuscular blocker was planned.[file.scirp.org] neck - Short / small nose - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Stillbirth / neonatal death - Syndactyly of fingers / interdigital[csbg.cnb.csic.es]

  • Lytic Bone Lesion

    […] hypoplasia / absence - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Facial dysmorphism - Hypertelorism - Long philtrum - Micrognathia / retrognathia[csbg.cnb.csic.es] […] mouth with dental anomalies, low-set ears, and short neck.[iofbonehealth.org] neck.[orpha.net]

  • Robinow Syndrome

    […] fetal face appearance (broad and prominent forehead, hypertelorism, small saddle nose, anteverted nostrils, glabellar nevus flammeus, malar hypoplasia, down-turned mouth and retrognathia[ncbi.nlm.nih.gov] […] upper portion of limb 0008905 Short neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short stature Decreased body[rarediseases.info.nih.gov] Note severe micrognathia/retrognathia with cleft palate, apparently low-set and malformed ears, small and narrow chest, protuberant abdomen with omphalocele, and short and[emedicine.medscape.com]

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