Create issue ticket

2,377 Possible Causes for Overfolded Superior Helix, Pancytopenia, 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] The 12-yr-old female had pancytopenia, which is seen occasionally in patients with Seckel syndrome and is also a feature of Fanconi anemia, a well-recognized autosomal recessive[ncbi.nlm.nih.gov] Symptoms include: intellectual disability (more than half of the patients have an IQ below 50) microcephaly sometimes pancytopenia (low blood counts) cryptorchidism low birth[en.wikipedia.org]

    Missing: Overfolded Superior Helix
  • Down Syndrome

    transverse palmar crease, and short fifth finger with clinodactyly.[dx.doi.org] Since the circulating blast count is often low in ML-DS and the predominant haematological picture may be of slowly progressive pancytopenia, a bone marrow aspirate is usually[doi.org] transverse palmar creases ( 60% of patients) Joint hyperextensibility or hyperflexibility Neuromuscular hypotonia Diastasis recti Dry skin Premature aging Congenital heart[emedicine.medscape.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]

  • 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] Fan–Faz Fan death Fanconi anemia type 1 Fanconi anemia type 2 Fanconi anemia type 3 Fanconi–Bickel syndrome Fanconi ichthyosis dysmorphism Fanconi like syndrome Fanconi pancytopenia[sosu.us] PNLIPD OMIM:602596 Pancreatic Lymphoma, Familial OMIM:167800 Pancreatitis, Hereditary; PCTT OMIM:260480 Pancreatitis, Sclerosing Cholangitis, and Sicca Complex OMIM:167850 Pancytopenia[informatics.jax.org]

    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: Pancytopenia
  • Propionic Acidemia

    There was mild plagiocephaly and overfolding of the superior helix of each ear. The lower lip had loss of tissue in 2 lateral clefts with bulbous tissue in the center.[jamanetwork.com] This study investigated the hematologic abnormalities of an infant with propionic acidemia and reversible pancytopenia.[ncbi.nlm.nih.gov] In the severe neonatal onset form, the affected infants present with symptoms of metabolic intoxication (poor feeding, vomiting, altered sensorium) and pancytopenia within[orpha.net]

    Missing: Single Transverse Palmar Crease
  • Hoyeraal-Hreidarsson Syndrome

    transverse palmar crease Thick eyebrow Pruritus Gingivitis Eczematoid dermatitis Persistence of primary teeth Recurrent fungal infections Increased IgE level Red hair Hemihypertrophy[mendelian.co] We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental delay.[ncbi.nlm.nih.gov] Medical Genetics Original Paper Abstract We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental[link.springer.com]

    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] Myhre - See Myhre syndrome Growth retardation alopecia pseudoanodontia optic Growth retardation hydrocephaly lung hypoplasia Growth retardation prenatal with progressive pancytopenia[herenciageneticayenfermedad.blogspot.com]

    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] Fanconi Anemia Autosomal Recessive congenital pancytopenia . Normocytic anemia with neutropenia.[kumc.edu] 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
  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    transverse palmar crease Brachycephaly Coma Respiratory insufficiency Anteverted nares Craniosynostosis Wide nasal bridge Hypertension Epicanthus Visual impairment Anal atresia[mendelian.co] Laboratory Features Blood counts and marrow cellularity are often normal until 5 to 10 years of age, when pancytopenia develops over an extended interval.[patient-help.com] transverse palmar crease -Complete atrioventricular canal VSD ASD -Duodenal atresai, hirschsprung disease -earlyonset AD -Hypothyroidism, DMI -Atlantoaxial instability CAH[quizlet.com]

    Missing: Overfolded Superior Helix

Similar symptoms