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1,406 Possible Causes for Cognitive Developmental Delay, Single Transverse Palmar Crease, Wide Space Between the First and Second Toe

  • 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] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] […] nasal size Increased size of nose Large nose Pronounced nose [ more ] 0000448 Proportionate short stature 0003508 Seizures Seizure 0001250 Selective tooth agenesis 0001592 Single[rarediseases.info.nih.gov]

  • Down Syndrome

    transverse palmar crease, and short fifth finger with clinodactyly.[dx.doi.org] […] variants: or Down's syndrome Definition of Down syndrome : a congenital condition characterized especially by developmental delays, usually mild to moderate impairment in[merriam-webster.com] spacing, often with a deep plantar groove between the first and second toes.[doi.org]

  • Ring Chromosome 10

    Their common features were mental and growth retardation, low birth weight, microcephaly, stubby nose, hypertelorism, strabismus, wide set nipples, single transverse palmar[ncbi.nlm.nih.gov] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases[malacards.org]

    Missing: Cognitive Developmental Delay
  • X-Linked Syndromic Mental Retardation Type Chudley-Schwartz

    Single transverse palmar crease MedGen UID: 96108 • Concept ID: C0424731 • Finding A single transverse palmar crease is found in 5% of newborns and is frequently inherited[ncbi.nlm.nih.gov] delay, language impairment, and cognitive impairment hypotonia, poor feeding and failure to thrive in infancy, oral-pharyngeal dysphagia, obstructive and central sleep apnea[mdpi.com] Duplication in this region was also observed in four clinical samples referred for diagnosis of developmental delay, although no autistic features were reported in three of[nejm.org]

    Missing: Wide Space Between the First and Second Toe
  • Aarskog Syndrome

    transverse palmar crease 0000954 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Talipes 0001883 1%-4% of people have these symptoms Broad philtrum 0000289 Global[rarediseases.info.nih.gov] […] and developmental delays.[healthline.com] Sporadic Symptoms Round face and a shorter neck, epicanthic folds, maxillary hypoplasia, which causes several facial abnormalities, and single transverse palmar crease may[news-medical.net]

    Missing: Wide Space Between the First and Second Toe
  • Opitz-Kaveggia Syndrome

    Single transverse palmar creases and short hands and fingers have been less commonly observed in affected individuals [ Risheg et al 2007 ].[ncbi.nlm.nih.gov] […] umbilical artery, single transverse palmar creases, and hypotonia.[nature.com] […] slit-like eyes” small, low-set ears, stenotic auditory canals, small chin, prominent occiput, Grade II harsh systolic cardiac murmur, left cryptorchidism, diastasis recti, single[nature.com]

    Missing: Wide Space Between the First and Second Toe
  • Atelosteogenesis Type 2

    transverse palmar creases.[documents.tips] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] Developmental delay may be temporal or permanent; for example, in achondroplasia, motor development may be delayed in the first 2 years, due to macrocephaly and ligamentous[musculoskeletalkey.com]

  • 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] Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual[rarediseases.oscar.ncsu.edu] transverse palmar crease Feeding difficulties in infancy Narrow forehead Brachydactyly Hypoplasia of the corpus callosum Craniosynostosis Constipation Hypermetropia Coloboma[mendelian.co]

    Missing: Wide Space Between the First and Second Toe
  • Multiple Congenital Anomalies - Hypotonia - Seizures Type 3

    […] instability Neutropenia Single transverse palmar crease Downturned corners of mouth Flat face Abnormality of the cerebral cortex Need help with a diagnosis?[mendelian.co] […] umbilical artery, single transverse palmar creases, and hypotonia.[nature.com] transverse palmar creases Aganglionic megacolon Hypotrichosis Depressed nasal ridge Type II diabetes mellitus Thick lower lip vermilion Short palm Postaxial polydactyly Postural[mendelian.co]

    Missing: Wide Space Between the First and Second Toe
  • Pallister-Killian Syndrome

    Development/cognition : Developmental delay and learning difficulties. Often severe. Nervous system : Neuronal migration defects, seizures.[genetics4medics.com] […] and developmental delays.[pkskids.net] […] that are common to the syndrome-high forehead, broad nasal bridge, wide space between the eyes sparse scalp hair at birth high, arched palate hypopigmentation extra nipples cognitive[pkskids.net]

    Missing: Wide Space Between the First and Second Toe