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752 Possible Causes for Brachydactyly of the Foot, Depressed Nasal Tip, Pansynostosis

  • Craniosytosis Type 4

    The nose is typically short with a depressed bridge and a round nasal tip. Patients present with a high arched palate, delayed dental eruption and malocclusion.[dr-bianca-knoll.com] […] chromosome anomalies Ulbright-Hodes syndrome Ulna hypoplasia-intellectual disability syndrome Ulna metaphyseal dysplasia syndrome Ulnar hemimelia Ulnar hypoplasia-split foot[se-atlas.de] This is a term sometimes used to describe the premature closure of the coronal suture plus any other suture, like the lambdoid suture, Pansynostosis [ edit ] The word pansynostosis[en.wikipedia.org]

  • Wiedemann-Steiner Syndrome

    nasal tip Caved in nasal tip Depressed tip of nose Flat nasal tip Flat tip of nose Flattened nasal tip Nasal tip, depressed [ more ] 0000437 Downslanted palpebral fissures[rarediseases.info.nih.gov] Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Depressed[rarediseases.info.nih.gov]

    Missing: Pansynostosis
  • Craniosynostosis

    The nose is typically short with a depressed bridge and a round nasal tip. Patients present with a high arched palate, delayed dental eruption and malocclusion.[dr-bianca-knoll.com] Conclusions Early recognition and treatment of patients with pansynostosis of the cranial sutures is important.[doi.org] […] loss of the sagittal suture (scaphocephaly), alone or associated with loss of the coronal sutures (oxycephaly) or associated with loss of the coronal and lambdoid sutures (pansynostosis[ncbi.nlm.nih.gov]

    Missing: Brachydactyly of the Foot
  • Kabuki Syndrome

    Kabuki syndrome is characterized by long palpebral fissures, large ears, a depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation[ncbi.nlm.nih.gov] nasal tips, short fifth fingers, psychomotor retardation and dermatologic abnormalities.[ncbi.nlm.nih.gov] Patient had neurological deficit, psychomotor retardation, a peculiar face, including large prominent cup shaped ears, broad depressed nasal tip, and high arched palate, and[ncbi.nlm.nih.gov]

    Missing: Brachydactyly of the Foot Pansynostosis
  • Craniosynostosis Type 3

    In addition to partial cutaneous syndactyly, mild brachydactyly and clinodactyly of the 5th fingers are features in the hand and foot.[rrnursingschool.biz] This is a term sometimes used to describe the premature closure of the coronal suture plus any other suture, like the lambdoid suture, Pansynostosis [ edit ] The word pansynostosis[en.wikipedia.org] Foot syndactyly was also present in a paternal aunt (II-1) as well as in the proband’s sister (III-1) and her daughter (IV-1).[nature.com]

    Missing: Depressed Nasal Tip
  • Familial Scaphocephaly Syndrome

    In addition to partial cutaneous syndactyly, mild brachydactyly and clinodactyly of the 5th fingers are features in the hand and foot.[rrnursingschool.biz] Genetic determinants play a part in some coronal and pansynostosis, particularly where there is an associated craniofacial abnormality. Some cases are inherited.[thamburaj.com] It is the result of pansynostosis where all the sutures are prematurely fused and the skull assumes a towering shape-towering skull. Increased ICT is more often present.[thamburaj.com]

    Missing: Depressed Nasal Tip
  • Humero-Radial Synostosis

    nasal bridge Cleft nose / bifid tip Thin lips Long philtrum Low set ears Anteverted / prominent / bat ears Sprengel anomaly Inguinal hernia Scoliosis Limb deficiency - ray[mediscansystems.org] ] Craniosynostosis has following kinds: scaphocephaly , trigonocephaly , plagiocephaly , anterior plagiocephaly , posterior plagiocephaly , brachycephaly , oxycephaly , pansynostosis[en.wikipedia.org] IUGR) Asymmetry of the body / hemihypertrophy / hemiatrophy Short stature - prenatal / intrauterine dwarfism Short stature - postnatal Short limbs Skin dimples Pointed chin Depressed[mediscansystems.org]

    Missing: Brachydactyly of the Foot
  • Metaphyseal Acroscyphodysplasia

    The differential diagnosis of GNAS- orPDE4D-related disorders from others requires the accurate assess-ment for features of acrodysostosis type 2 (depressed nasal root,short[docslide.us] […] chromosome anomalies Ulbright-Hodes syndrome Ulna hypoplasia-intellectual disability syndrome Ulna metaphyseal dysplasia syndrome Ulnar hemimelia Ulnar hypoplasia-split foot[se-atlas.de] […] nose with broad nasal tip, and short philtrum), PHP (roundface, brachydactyly, short stature, obesity, and intellectual im-pairment), and endocrinological abnormality.In[docslide.us]

    Missing: Pansynostosis
  • Postaxial Oligodactyly, Tetramelic

    nasal tip Panhypopituitarism Bilateral cleft lip Bilateral cleft lip and palate Median cleft lip Hypopituitarism Omphalocele Spastic diplegia Dental malocclusion Spontaneous[mendelian.co] Generalized hypotonia Broad foot Spinal canal stenosis Muscle weakness Hyperhidrosis Fatigue Hernia Arthralgia Joint laxity Arachnodactyly Stroke Joint hypermobility Scarring[mendelian.co] AD Hypodontia (may be part of EEC spectrum) Split-hand/foot with micrognathia 246560 AD Micrognathia Triphalangeal thumbs with brachyectrodactyly 190680 AD Brachydactyly,[docksci.com]

    Missing: Pansynostosis
  • Adactyly of Foot

    nasal tip Hypoplasia of the thymus Hand polydactyly Sparse eyelashes Hypogonadotrophic hypogonadism Sparse and thin eyebrow Sparse scalp hair Semilobar holoprosencephaly[mendelian.co] , unspecified lower limb Approximate Synonyms Brachydactyly of bilat toes Brachydactyly of bilateral toes Brachydactyly of left toes Brachydactyly of right toes Brachydactyly[icd9data.com] nasal root and tip Comments:Note the difference from Depressed nasal bridge.[quizlet.com]

    Missing: Pansynostosis