Brachymorphism-onychodysplasia-dysphalangism syndrome

Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants.



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Narrow down the case reports



Total: 4 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(63.5%)		 9546830
 Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome?
Ounap K, Justus I, Lipping-Sitska M.
Clin Dysmorphol. 1998;7(1):45-50.
Micrognathia High forehead Telecanthus
Child, Preschool Congenital Foot Deformity Congenital Hand Deformities Congenital Heart Defects Females Growth Disorders Homo sapiens Microcephaly Phenotype Syndrome
2
(40.2%)		 8445623
 Brachymorphism-onychodysplasia-dysphalangism syndrome.
Verloes A, Bonneau D, Guidi O, Berthier M, Oriot D, Van Maldergem L, Koulischer L.
J Med Genet. 1993;30(2):158-61.
Microcephaly Pointed chin
Child, Preschool Females Fetal Growth Retardation Fingers Homo sapiens Infant Male Phenotype Syndrome Toes
3
(4.0%)		 7155665
 Neutral lipid storage with acid lipase deficiency: a new variant of Wolman's disease with features of the Senior syndrome.
Philippart M, Durand P, Borrone C.
Pediatr Res. 1982;16(11):954-9.
Renal insufficiency
Child Cholesterol Esters Females Homo sapiens Kidney Lipid Metabolism Lipid Metabolism, Inborn Errors Liver Nephritis, Interstitial Syndrome Triglycerides Xanthomatosis
3
(4.0%)		 2648941
 [Nephronophthisis, tapeto-retinal degeneration, encephalopathy and vermian agenesis: a new association. Apropos of 3 familial cases].
Marchal JL, Hehunstre JP, Deminiere C, Guerin J, Romanet P.
Ann Pediatr (Paris). 1989;36(2):126-31.
Encephalopathy
Brain Diseases Cerebellum Child Females Homo sapiens Infant Infant, Newborn Kidney Diseases Male Retinal Degeneration Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 38

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001800 Hypoplastic toenails Very frequent (99-80%)
HP:0001802 Absent toenail Very frequent (99-80%)
HP:0001804 Hypoplastic fingernail Very frequent (99-80%)
HP:0001817 Absent fingernail Very frequent (99-80%)
HP:0001857 Short distal phalanx of toe Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0008398 Hypoplastic fifth fingernail Very frequent (99-80%)
HP:0100797 Toenail dysplasia Very frequent (99-80%)
HP:0100798 Fingernail dysplasia Very frequent (99-80%)
HP:0000154 Wide mouth Frequent (79-30%)
HP:0000272 Malar flattening Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000307 Pointed chin Frequent (79-30%)
HP:0000325 Triangular face Frequent (79-30%)
HP:0000348 High forehead Frequent (79-30%)
HP:0000448 Prominent nose Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Frequent (79-30%)
HP:0002007 Frontal bossing Frequent (79-30%)
HP:0004422 Biparietal narrowing Frequent (79-30%)
HP:0000023 Inguinal hernia Occasional (29-5%)
HP:0000248 Brachycephaly Occasional (29-5%)
HP:0000280 Coarse facial features Occasional (29-5%)
HP:0000574 Thick eyebrow Occasional (29-5%)
HP:0001256 Intellectual disability, mild Occasional (29-5%)
HP:0001537 Umbilical hernia Occasional (29-5%)
HP:0001631 Atrial septal defect Occasional (29-5%)
HP:0001633 Abnormal mitral valve morphology Occasional (29-5%)
HP:0002086 Abnormality of the respiratory system Occasional (29-5%)
HP:0002230 Generalized hirsutism Occasional (29-5%)
HP:0004209 Clinodactyly of the 5th finger Occasional (29-5%)
HP:0009773 Symphalangism affecting the phalanges of the hand Occasional (29-5%)
HP:0009890 High anterior hairline Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0000252 Microcephaly 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID