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741 Possible Causes for Brachydactyly of the Foot, Depressed Nasal Tip, Facial Appearance Becomes More Apparent with Age

  • 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]

  • Stickler Syndrome Type 2

    becoming more apparent with age.[quizlet.com] […] retardation Paroxysmal nocturnal hemoglobinuria Osteopetrosis autosomal recessive 3 Complement component 2 deficiency Loeys-Dietz syndrome type 4 CHARGE syndrome Hand and foot[checkrare.com] Midface hypoplasia, depressed nasal bridge in childhood, anteverted nares (tipped or bent nasal cavity openings), split uvula, cleft hard palate, micrognathia, Pierre-Robin[encyclopedia.com]

  • 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 Facial Appearance Becomes More Apparent with Age
  • Metaphyseal Acroscyphodysplasia

    […] chromosome anomalies Ulbright-Hodes syndrome Ulna hypoplasia-intellectual disability syndrome Ulna metaphyseal dysplasia syndrome Ulnar hemimelia Ulnar hypoplasia-split foot[se-atlas.de] 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] […] syndrome Ulnar-mammary syndrome Ulnar/fibula ray defect-brachydactyly syndrome Unilateral focal polymicrogyria Unilateral hemispheric polymicrogyria Unilateral polymicrogyria[se-atlas.de]

    Missing: Facial Appearance Becomes More Apparent with Age
  • 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: Facial Appearance Becomes More Apparent with Age
  • Adactyly of Foot

    , 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 tip Hypoplasia of the thymus Hand polydactyly Sparse eyelashes Hypogonadotrophic hypogonadism Sparse and thin eyebrow Sparse scalp hair Semilobar holoprosencephaly[mendelian.co] nasal root and tip Comments:Note the difference from Depressed nasal bridge.[quizlet.com]

    Missing: Facial Appearance Becomes More Apparent with Age
  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    nasal tip Generalized osteosclerosis Triangular mouth Cataract Umbilical hernia Epicanthus Myopia Microphthalmia Syndactyly Telecanthus Toe syndactyly Thin vermilion border[mendelian.co] In older individuals, the chin and nasal tip becomes more prominent and the face elongates.[chginc.org] Autosomal dominant inheritance Sparse hair Large fontanelles Osteolysis Joint stiffness Short foot Short nose Short finger Short distal phalanx of finger Sparse eyelashes[mendelian.co]

    Missing: Facial Appearance Becomes More Apparent with Age
  • 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] […] syndrome Ulnar-mammary syndrome Ulnar/fibula ray defect-brachydactyly syndrome Unilateral focal polymicrogyria Unilateral hemispheric polymicrogyria Unilateral polymicrogyria[se-atlas.de]

    Missing: Facial Appearance Becomes More Apparent with Age
  • Mandibulofacial Dysostosis

    […] bone (nasal hypoplasia) so that the nose is abnormally small and the bridge of the nose may be flattened or depressed.[rarediseases.org] Radiographs showed severe brachydactyly with short metacarpals II-V, metatarsals II-IV and phalanges, first ray hyperplasia of the foot, cone-shaped epiphyses, and early epiphyseal[jcrpe.org] In some cases, the tip of the nose is rounded (bulbous) and the nostrils point upward giving the appearance of an upturned nose (anteverted nares).[rarediseases.org]

    Missing: Facial Appearance Becomes More Apparent with Age
  • Familial Congenital Nasolacrimal Duct Obstruction

    nasal bridge; Short nose; Upturned nasal tip; [Mouth]; Large, carp-shaped mouth; [Neck]; Short neck CARDIOVASCULAR: [Heart]; Ventricular septal defect; Atrial septal defect[genome.jp] In fact, the ratio of the width of the great toe to the second toe may be useful in diagnosing this syndrome. 87 , 91 Brachydactyly, clinodactyly, and partial soft tissue[entokey.com] --CHLOROFORM Water," " MYRINGITIS BULLOSA---caused by Virus," "NASAL DEPRESSED BRIDGE--- caused by Syphylis, Septal Abscess, Injury," CROOKED NOSE---due to Deviated Tip &[mypgnotes.com]

    Missing: Facial Appearance Becomes More Apparent with Age