Create issue ticket

981 Possible Causes for Cafe-Au-Lait Spots, Delayed Closure of Fontanelles, Wide Space Between the First and Second Toe

  • Russell-Silver Syndrome

    […] extremely short stature and body and facial asymmetry, excessive sweating, a small triangular face which makes the skull look large by comparison, inward curved fingers, cafe-au-lait[medical-dictionary.thefreedictionary.com] […] of the anterior fontanel (soft spot) · frequent ear infections or chronic fluid in ears · congenital absence of the second premolars · delay of gross and fine motor development[coltongeorge.com] 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]

  • Rubinstein-Taybi Syndrome

    […] uterus 0000136 Bimanual synkinesia Hand mirror movements Mirror hand movements Mirror movements [ more ] 0001335 Broad hallux Broad big toe Wide big toe [ more ] 0010055 Cafe-au-lait[rarediseases.info.nih.gov] spot 0000957 Cataract Clouding of the lens of the eye Cloudy lens [ more ] 0000518 Chorioretinal dystrophy 0001135 Coloboma Notched pupil 0000589 Deeply set eye Deep set[rarediseases.info.nih.gov]

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

    […] contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324 Few cafe-au-lait[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] spots 0007429 Growth delay Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ] 0001510 Heart murmur Heart murmurs 0030148[rarediseases.info.nih.gov]

    Missing: Delayed Closure of Fontanelles
  • Cleidocranial Dysplasia

    au lait spots syndrome * Caffey disease * CAHMR syndrome * Calcinosis cutis (see also CREST… … Wikipedia[medicine.academic.ru] Cleidocranial dysplasia (CCD) is a rare genetic disorder of bone, characterised by hypoplastic/aplastic clavicles, delayed closure of fontanelles and sutures of the cranium[ncbi.nlm.nih.gov] We studied a Chinese family that included three affected individuals with CCD phenotypes; the clinical features of patients with CCD include delayed closure of fontanelles[ncbi.nlm.nih.gov]

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

    Bloom syndrome is a rare autosomal recessive disorder characterized by short stature, brachydactyly, malar hypoplasia and facial telangiectasia, erythema and cafe au lait[radiopaedia.org] Other features include hypoplasia of the base of the skull with small face and mandible, delayed closure of the fontanels, saddle nose, hypotrichosis, delayed dentition, tooth[whonamedit.com] Bloom syndrome is a rare autosomal recessive disorder characterised by short stature, brachydactyly, malar hypoplasia and facial telangiectasia, erythema and cafe au lait[radiopaedia.org]

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

    […] contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324 Few cafe-au-lait[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] spots 0007429 Growth delay Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ] 0001510 Heart murmur Heart murmurs 0030148[rarediseases.info.nih.gov]

    Missing: Delayed Closure of Fontanelles
  • Kenny-Caffey Syndrome Type 1

    Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia[uniprot.org] space between the first and second toes.[medcraveonline.com] OMIM : 57 Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of[malacards.org]

    Missing: Cafe-Au-Lait Spots
  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    Cafe-au-lait spots occur and increase in number over the rst2 years.[documents.tips] […] bone age, downturned corners of mouth and thin upper lip, hypospadias, high pitched voice, small chin, delayed closure of the fontanel, hypoglycemia, and a bossed forehead[en.wikipedia.org] […] hyperflexibility Joints move beyond expected range of motion 0005692 Low-set ears Low set ears Lowset ears [ more ] 0000369 Microdontia Decreased width of tooth 0000691 Multiple cafe-au-lait[rarediseases.info.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • Ring Chromosome 10

    au lait spot, digital anomalyMicrocephaly, short statureFDMental retardation, hypotrophy, hypotonic PMDDSystolic murmur46,XX,r(11); no apparent loss of chromosome material[edmcasereports.com] 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] […] death at 2.5 years old due to pulmonary bleeding46,XX,r(11)(p15q25)/45,XX; ring instability; clinical features of JS; and karyotype of parents unavailable (3) Neonatal/F– Cafe[edmcasereports.com]

    Missing: Delayed Closure of Fontanelles
  • Calvarial Doughnut Lesions - Bone Fragility Syndrome

    After deliverythe child was in no respiratory distress and was discharged home.The child was noted to have bulging cheeks and swollen gingva.There were no cafe au lait spots[docslide.net] closure of the anterior fontanel, underdeveloped paranasal sinuses, small mandible with hypoplasia of the coronoid process, and wide angle and thinning of the mandibular[rrnursingschool.biz] In Melnick-Needles syndrome (osteodys-plasty, OMIM 309350) cranial features include sclerosis of skull base and mastoids, increased calvarial convolutional markings, delayed[rrnursingschool.biz]

    Missing: Wide Space Between the First and Second Toe

Similar symptoms