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758 Possible Causes for Beaked Nose, Overfolded Superior Helix, Single Transverse Palmar Crease

  • Seckel Syndrome

    transverse palmar crease 0000954 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Small anterior fontanelle 0000237 Small for gestational age Birth weight[rarediseases.info.nih.gov] This syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a "bird-headed" like appearance (beaked nose, receding forehead, prominent[ncbi.nlm.nih.gov] General appearance of the patient was characterized by small forehead, posteriorly slanted ears, slightly beaked nose, midfacial hypoplasia very stunted stature with microcephaly[ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • Rubinstein-Taybi Syndrome

    transverse palmar crease 0000954 Spina bifida occulta 0003298 Sporadic No previous family history 0003745 Stereotypy Repetitive movements Repetitive or self-injurious behavior[rarediseases.info.nih.gov] A 2 month-old boy had atypical facial findings such as low anterior hairline, triangular face, hirsutism on forehead, down-slanting palpebral fissures, beaked nose, broad[ncbi.nlm.nih.gov] Extra oral features revealed distinctive facial appearance with a broad fore head, hypertelorism, broad nasal bridge and beaked nose.[ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • Wolf-Hirschhorn Syndrome

    [ncbi.nlm.nih.gov] Single Transverse Palmar Crease transverse palmar crease , broad hands, fifth digit clinodactyly), joint hyperflexibility, redundant neck skin, pelvic dysplasia[symptoma.com] Note the characteristic dysmorphic facial features, including prominent glabella, hypertelorism, beaked nose, and frontal bossing, collectively described as "Greek warrior[emedicine.medscape.com] transverse palmar crease, broad hands, fifth digit clinodactyly), joint hyperflexibility, redundant neck skin, pelvic dysplasia, wide gap between first and second toes (sandal[pathophys.org]

    Missing: Overfolded Superior Helix
  • Pitt-Hopkins Syndrome

    nose, wide mouth, fleshy lips, and clubbed fingertips).[ncbi.nlm.nih.gov] The dysmorphism consists of a large beaked nose, cup-shaped ears with broad helices, a wide mouth, Cupid's bow upper lip, wide and shallow palate and broad or clubbed fingertips[ncbi.nlm.nih.gov] Facial dysmorphism - Enophthalmos, thin eyebrows, a large beaked nose with flared nostrils, broad cup-shaped ears, a fleshy and Cupid's bow appearance of the upper lip, a[symptoma.com]

    Missing: Overfolded Superior Helix
  • Kaufman Oculocerebrofacial Syndrome

    Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[findzebra.com] transverse palmar crease 0000954 Sparse and thin eyebrow Thin, sparse eyebrows 0000535 Ventricular septal defect Hole in heart wall separating two lower heart chambers 0001629[rarediseases.info.nih.gov] transverse palmar crease Feeding difficulties in infancy Narrow forehead Brachydactyly Hypoplasia of the corpus callosum Craniosynostosis Constipation Hypermetropia Coloboma[mendelian.co]

  • Saethre-Chotzen Syndrome

    Associated hands and feet malformations consist of bilateral single transverse palmar creases, syndactyly, broad thumbs, brachydactyly, hallux valgus, triphalangeal thumb,[symptoma.com] The Saethre-Chotzen Syndrome (SCS) is characterized by craniosynostosis, low-set frontal hairline, parrot-beaked nose with deviated septum, ptosis of the eyelids, strabismus[ncbi.nlm.nih.gov] transverse palmar creases 0007598 Blepharospasm Eyelid spasm Eyelid twitching Involuntary closure of eyelid Spontaneous closure of eyelid [2] The TWIST1 gene provides instructions[rarediseases.info.nih.gov]

    Missing: Overfolded Superior Helix
  • Smith Lemli Opitz Syndrome

    On fetal post-mortem examination, a midline U-shaped soft palate cleft, micrognathia, postaxial polydactyly of the fingers with single transverse palmar creases bilaterally[ncbi.nlm.nih.gov] nose, and a prominent columella.[journals.lww.com] […] consists of microcephaly, a low anterior hair line, downslanting palpebral fissures, ocular signs (including ptosis, epicanthus, and strabismus), a broad nasal bridge, a beaked[journals.lww.com]

    Missing: Overfolded Superior Helix
  • Coffin-Lowry Syndrome

    superior helix [ Graham et al 1998 ].[ncbi.nlm.nih.gov] transverse palmar crease 0000954 Sporadic No previous family history 0003745 Telecanthus Corners of eye widely separated 0000506 Thick eyebrow Bushy eyebrows Dense eyebrow[rarediseases.info.nih.gov] […] macrocephaly; constipation that may be associated with anal anomalies; broad thumbs and halluces; prominent fingertip pads; and small, rounded, cupped ears that often have an overfolded[ncbi.nlm.nih.gov]

    Missing: Beaked Nose
  • Ring Chromosome 4

    transverse palmar crease Shares features of another case with duplication of 22q11.1 to q13 [ edit ] Absence of speech Persistent self-injury Lack of daily living skills[en.wikibooks.org] Seckel syndrome is a rare entity characterized by marked growth retardation, microcephaly, facies characterized by receding forehead and chin, large beaked nose, and severe[ncbi.nlm.nih.gov] * Beaked nose * Short philtrum * Epicanthal folds * Highly arched palate * Cleft palate * Tooth enamel hypoplasia * Clinodactyly * Thumb aplasia * Thumb hypoplasia * Abnormal[checkorphan.org]

    Missing: Overfolded Superior Helix
  • Kenny-Caffey Syndrome Type 1

    transverse palmar crease, and wide space between the first and second toes.[medcraveonline.com] nose, and micrognathia.Visit the Orphanet disease page for more resources.[malacards.org] There were no chromosomal abnormalities but all patients shared several dysmorphic features including deep set eyes, microcephaly, thin lips, beaked nose tip, external ear[scienceopen.com]

    Missing: Overfolded Superior Helix

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