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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[rarediseases.info.nih.gov] superior helix [ Graham et al 1998 ].[ncbi.nlm.nih.gov] Typically, male patients are of short stature and exhibit a characteristic coarse face with a prominent forehead, orbital hypertelorism, downslanting palpebral fissures, thick[ncbi.nlm.nih.gov]

  • Pitt-Hopkins Syndrome

    Cardinal findings in this syndrome are mental retardation, "coarse" face, and an abnormal breathing pattern.[ncbi.nlm.nih.gov] face, a broad nasal bridge and a wide mouth, and hyperventilation attacks.[ncbi.nlm.nih.gov] 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[genome.jp]

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

  • Pallister-Killian Syndrome

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

    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[malacards.org] * Cloverleaf skull micromelia thoracic dysplasia * Cluttering * CMV antenatal infection * COACH syndrome * Coal worker's pneumoconiosis * Coarctation of aorta dominant * Coarse[medicalgeek.com] face-macrocephaly-cerebellar hypotrophy syndrome Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome Intellectual disability-developmental delay-contractures[se-atlas.de]

    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[rarediseases.info.nih.gov] GCM syndrome symptoms include: Feet and metacarpal bones abnormalities Cognitive and hearing impairment Coarse hair and low hairline Underdeveloped mid-face Flattened forehead[patientworthy.com] They have a low hairline on the forehead and their scalp hair is often coarse.[ghr.nlm.nih.gov]

    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[mendelian.co] However, the degree and extent of facial deformity varies and the judgment of abnormality, such as “triangular” or “coarseface, hypertelorism, “nasal contour” or “short[jle.com] Abstract Cantú syndrome is a very rare autosomal dominant disorder characterized by generalized congenital hypertrichosis, neonatal macrosomia, coarse face, cardiomegaly,[karger.com]

    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[mendelian.co] (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[malacards.org] (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[malacards.org]

    Missing: Overfolded Superior Helix