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1,024 Possible Causes for Coarse Face, Overfolded Superior Helix, Single Transverse Palmar Crease

  • Coffin-Lowry Syndrome

    transverse palmar crease 0000954 Sporadic No previous family history 0003745 Telecanthus Corners of eye widely separated 0000506 Thick eyebrow Bushy eyebrows Dense eyebrow[] superior helix [ Graham et al 1998 ].[] Typically, male patients are of short stature and exhibit a characteristic coarse face with a prominent forehead, orbital hypertelorism, downslanting palpebral fissures, thick[]

  • Pitt-Hopkins Syndrome

    Cardinal findings in this syndrome are mental retardation, "coarse" face, and an abnormal breathing pattern.[] face, a broad nasal bridge and a wide mouth, and hyperventilation attacks.[] Journal Ital J Pediatr 36:12 (2010) DOI: 10.1186/1824-7288-36-12 Reference PMID: 9475596 Authors Van Balkom ID, Quartel S, Hennekam RC Title Mental retardation, "coarse" face[]

    Missing: Overfolded Superior Helix
  • Kaufman Oculocerebrofacial Syndrome

    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[] Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[] Tapetoretinal degeneration Abnormality of the larynx Radioulnar synostosis Macular edema Bone spicule pigmentation of the retina Vocal cord paralysis Furrowed tongue Long face[]

  • Pallister-Killian Syndrome

    It consists of "coarse" face, acral hypoplasia, diaphragmatic hernia, and other defects.[] Pallister-Killian syndrome is a rare disorder characterized by multiple congenital anomalies, coarse face, pigmentary skin changes, seizures, severe mental retardation, and[] The syndrome presents with a recognizable pattern of findings including pigmentary skin changes, coarse face, high forehead, sparse anterior scalp hair, hypertelorism, seizures[]

    Missing: Overfolded Superior Helix
  • Postaxial Oligodactyly, Tetramelic

    transverse palmar crease 32 HP:0000954 9 radial bowing 32 HP:0002986 10 postaxial oligodactyly 32 HP:0006210 11 partial-complete absence of 5th phalanges 32 HP:0006209 12[] * Cloverleaf skull micromelia thoracic dysplasia * Cluttering * CMV antenatal infection * COACH syndrome * Coal worker's pneumoconiosis * Coarctation of aorta dominant * Coarse[] face-macrocephaly-cerebellar hypotrophy syndrome Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome Intellectual disability-developmental delay-contractures[]

    Missing: Overfolded Superior Helix
  • Coffin-Siris Syndrome
    Missing: Overfolded Superior Helix
  • Kleefstra Syndrome
    Missing: Overfolded Superior Helix
  • Gorlin-Chaudhry-Moss Syndrome

    Anomalies of the extremities (hypoplastic distal phalanges, small/aplastic nails, cutaneous syndactyly, absent flexion crease of the thumbs, single transverse palmar creases[] GCM syndrome symptoms include: Feet and metacarpal bones abnormalities Cognitive and hearing impairment Coarse hair and low hairline Underdeveloped mid-face Flattened forehead[] They have a low hairline on the forehead and their scalp hair is often coarse.[]

    Missing: Overfolded Superior Helix
  • Hypertrichotic Osteochondrodysplasia

    transverse palmar crease Tics Hernia Polyhydramnios Autosomal recessive inheritance Inguinal hernia Protruding ear Thin vermilion border High, narrow palate Delayed eruption[] However, the degree and extent of facial deformity varies and the judgment of abnormality, such as “triangular” or “coarseface, hypertelorism, “nasal contour” or “short[] Abstract Cantú syndrome is a very rare autosomal dominant disorder characterized by generalized congenital hypertrichosis, neonatal macrosomia, coarse face, cardiomegaly,[]

    Missing: Overfolded Superior Helix
  • Distal Symphalangism

    transverse palmar crease Symptoms // Phenotype % cases Autosomal recessive inheritance Uncommon - Between 30% and 50% cases Bilateral single transverse palmar creases Uncommon[] (29-5%) 20 tall stature 33 HP:0000098 21 short 1st metacarpal 33 HP:0010034 22 broad foot 33 HP:0001769 23 single transverse palmar crease 33 HP:0000954 24 camptodactyly[] (29-5%) 20 tall stature 32 HP:0000098 21 short 1st metacarpal 32 HP:0010034 22 broad foot 32 HP:0001769 23 single transverse palmar crease 32 HP:0000954 24 camptodactyly[]

    Missing: Overfolded Superior Helix