Abnormality of the skeletal system, and Flat face

Diseases related with Abnormality of the skeletal system and Flat face

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Flat face that can help you solving undiagnosed cases.


Top matches:

Low match ROBINOW-SORAUF SYNDROME


ROBINOW-SORAUF SYNDROME Is also known as acrocephalosyndactyly, robinow-sorauf type|craniosynostosis-bifid hallux syndrome

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Malar flattening
  • Flat face
  • Plagiocephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ROBINOW-SORAUF SYNDROME

Low match BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2


Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Hypothyroidism
  • High forehead
  • Cleft lip


SOURCES: OMIM MENDELIAN

More info about BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2

Low match OROFACIODIGITAL SYNDROME XV; OFD15


OROFACIODIGITAL SYNDROME XV; OFD15 Is also known as oral-facial-digital syndrome, type xv|ofds xv

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Wide nasal bridge
  • Ventriculomegaly
  • Anteverted nares


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XV; OFD15

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Other less relevant matches:

Low match HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3


Hennekam lymphangiectasia-lymphedema syndrome-3 (HKKLLS3) is characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity (Brouillard et al., 2017).For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape
  • Edema


SOURCES: OMIM MENDELIAN

More info about HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3

Low match STICKLER SYNDROME, TYPE IV; STL4


Related symptoms:

  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Myopia
  • Genu valgum


SOURCES: OMIM MENDELIAN

More info about STICKLER SYNDROME, TYPE IV; STL4

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 TYPE


Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 TYPE Is also known as semd, matrilin-3 type|semd, matn3-related

Related symptoms:

  • Short stature
  • Pectus excavatum
  • Severe short stature
  • Hyperlordosis
  • Platyspondyly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 TYPE

Low match MENTAL RETARDATION, X-LINKED 30; MRX30


MENTAL RETARDATION, X-LINKED 30; MRX30 Is also known as mental retardation, x-linked 47|mrx47

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • High palate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 30; MRX30

Low match MULTIPLE EPIPHYSEAL DYSPLASIA, BEIGHTON TYPE


Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.

MULTIPLE EPIPHYSEAL DYSPLASIA, BEIGHTON TYPE Is also known as multiple epiphyseal dysplasia-myopia-deafness syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Cataract
  • Brachydactyly
  • Myopia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, BEIGHTON TYPE

Low match PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A


The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 3 (CG3) have mutations in the PEX12 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Low-set ears
  • Hepatomegaly
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A

Low match CRANIOFACIAL-DEAFNESS-HAND SYNDROME


Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.

CRANIOFACIAL-DEAFNESS-HAND SYNDROME Is also known as sommer-young-wee-frye syndrome|cdhs

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOFACIAL-DEAFNESS-HAND SYNDROME

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Flat face

Symptoms // Phenotype % cases
Hypertelorism Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Flat face. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Seizures Anteverted nares Short nose Strabismus Narrow mouth Epiphyseal dysplasia Genu valgum Sensorineural hearing impairment Malar flattening Generalized hypotonia Upslanted palpebral fissure Myopia Broad hallux High forehead Schizophrenia Spondyloepiphyseal dysplasia Coxa valga Short phalanx of finger Round face Short palm Conductive hearing impairment Abnormality of the wrist Brachydactyly Cataract Long ear Short attention span Restlessness Agitation Bilateral sensorineural hearing impairment Anonychia Drooling Open mouth Psychosis Aggressive behavior Anxiety Thin upper lip vermilion Macrotia Ulnar deviation of the hand Hyperactivity Lacrimal duct atresia Intellectual disability, severe Delayed speech and language development High palate Microcephaly Delayed gross motor development Multiple epiphyseal dysplasia Retinal dysplasia Generalized neonatal hypotonia High, narrow palate Wide nose Camptodactyly of finger Aplasia/Hypoplasia involving the nose Blepharophimosis Interphalangeal joint contracture of finger Telecanthus Clinodactyly Downslanted palpebral fissures Depressed nasal bridge Flexion contracture Ptosis Micrognathia Depressed nasal ridge Hypoplasia of the maxilla Epiphyseal stippling Polycystic kidney dysplasia Bradycardia Feeding difficulties in infancy Areflexia Dilatation Hepatomegaly Narrow face Congenital sensorineural hearing impairment Ulnar deviation of the hand or of fingers of the hand Ulnar deviation of finger Low-set ears Asteroid hyalosis Retinal thinning Ulnar deviation of the wrist Irregular epiphyses Intellectual disability Euryblepharon Abnormal intestine morphology Lymphedema Synophrys Hepatosplenomegaly Polyhydramnios Edema Global developmental delay Lobulated tongue Molar tooth sign on MRI Postaxial polydactyly Hydronephrosis Polydactyly Agenesis of corpus callosum Ventriculomegaly Ectropion of lower eyelids Facial edema Distichiasis Conical tooth Ectropion Reduced number of teeth Anal atresia Facial asymmetry Cleft lip Hypothyroidism Duplication of phalanx of hallux Craniofacial dysostosis Narrow nose Shallow orbits Long nose Plagiocephaly Protein-losing enteropathy Astigmatism Dysplastic iliac wings Short long bone Metaphyseal spurs Posterior rib cupping Hypoplastic pubic bone Narrow iliac wings Small epiphyses Enlarged joints Spondyloepimetaphyseal dysplasia Ovoid vertebral bodies Flat acetabular roof Limited elbow extension Thoracic hypoplasia Bowing of the legs Metaphyseal widening Disproportionate short-limb short stature Lumbar hyperlordosis Retinal detachment Limb undergrowth Waddling gait Micromelia Platyspondyly Hyperlordosis Severe short stature Pectus excavatum Degenerative vitreoretinopathy Irregular capital femoral epiphysis Rhegmatogenous retinal detachment Flat capital femoral epiphysis Vitreoretinopathy Severe sensorineural hearing impairment High myopia Limited wrist movement



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