Brachydactyly, and Upslanted palpebral fissure

Diseases related with Brachydactyly and Upslanted palpebral fissure

In the following list you will find some of the most common rare diseases related to Brachydactyly and Upslanted palpebral fissure that can help you solving undiagnosed cases.


Top matches:

Medium match MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES; MISSLA


MISSLA is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development (summary by Reynolds et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES; MISSLA

Medium match HOLOPROSENCEPHALY 7; HPE7


Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

Medium match OROFACIODIGITAL SYNDROME XVIII; OFD18


Orofaciodigital syndrome-18 is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features (Thevenon et al., 2016).

OROFACIODIGITAL SYNDROME XVIII; OFD18 Is also known as ofds xviii|oral-facial-digital syndrome, type xviii

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Brachydactyly
  • Wide nasal bridge
  • Upslanted palpebral fissure


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVIII; OFD18

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Other less relevant matches:

Medium match RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME


SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME Is also known as retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME

Medium match AYME-GRIPP SYNDROME; AYGRP


Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth (Niceta et al., 2015).

AYME-GRIPP SYNDROME; AYGRP Is also known as cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about AYME-GRIPP SYNDROME; AYGRP

Medium match CORNELIA DE LANGE SYNDROME 4; CDLS4


Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cleft palate
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 4; CDLS4

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57


MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features (summary by Reijnders et al., 2018).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57

Medium match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3


The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face' (summary by White et al., 2016).For a discussion of genetic heterogeneity in Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3

Medium match 5Q14.3 MICRODELETION SYNDROME


The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.

5Q14.3 MICRODELETION SYNDROME Is also known as monosomy 5q14.3|del(5)(q14.3)|mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about 5Q14.3 MICRODELETION SYNDROME

Medium match MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME


Autosomal dominant mental retardation-44 is characterized by mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Most patients also have microcephaly; additional features are highly variable (summary by Ba et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Upslanted palpebral fissure

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short nose Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Upslanted palpebral fissure. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Thin upper lip vermilion

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Epicanthus Wide nasal bridge Long philtrum Anteverted nares Hypertelorism Seizures High forehead Midface retrusion Clinodactyly Hyperactivity Delayed speech and language development Low-set ears Attention deficit hyperactivity disorder Hearing impairment Cleft lip Broad forehead Posteriorly rotated ears Smooth philtrum Strabismus Motor delay Ptosis Depressed nasal bridge Downslanted palpebral fissures Thick eyebrow Kyphosis Macrotia Feeding difficulties Intellectual disability, mild Micrognathia High palate Radioulnar synostosis

Rare Symptoms - Less than 30% cases


Convex nasal ridge Cleft palate Short phalanx of finger Myopia Obsessive-compulsive behavior Short philtrum Prominent nasal bridge Mesomelia Broad nasal tip Finger clinodactyly Tented upper lip vermilion Tapered finger Sensorineural hearing impairment Clinodactyly of the 5th finger Short femoral neck Microtia Abnormality of the skeletal system Downturned corners of mouth Narrow mouth Short distal phalanx of finger Growth delay Iris coloboma Scoliosis Generalized hypotonia Dental malocclusion Autism Pes planus Broad thumb Median cleft lip Macrocephaly Telecanthus Autistic behavior Protruding ear Frontal bossing Deeply set eye Synophrys Highly arched eyebrow Webbed neck Blue sclerae Agenesis of permanent teeth Mild global developmental delay Tricuspid regurgitation Pulmonary artery atresia Long eyelashes Gingival overgrowth Anteriorly placed anus Patent foramen ovale Proptosis Syncope Patent ductus arteriosus Hypertrichosis Diarrhea Constipation Anxiety Craniosynostosis Blepharophimosis Hyperacusis Long face Joint hypermobility Otitis media Recurrent otitis media Short neck Hoarse voice Pointed chin Toe walking Hyperventilation Microtia, first degree Tall chin Cryptorchidism Obsessive-compulsive trait Ventricular septal defect Hypoplastic right heart Encephalopathy Muscular hypotonia Periventricular white matter hyperdensities Infantile spasms Poor eye contact Abnormality of the periventricular white matter Large earlobe Agenesis of cerebellar vermis Periventricular leukomalacia Abnormal corpus callosum morphology Abnormality of nervous system morphology Happy demeanor Hemiclonic seizures Frontal cortical atrophy Hyperreflexia Optic nerve hypoplasia Dysphagia Behavioral abnormality Recurrent infections Pectus excavatum Gait ataxia Aggressive behavior Abnormal cardiac septum morphology Poor speech Facial asymmetry Thick vermilion border Hypodontia Low anterior hairline Cupped ear Plagiocephaly Ventriculomegaly 2-3 toe syndactyly Abnormality of finger Hypoplasia of the corpus callosum Intellectual disability, severe Dilatation Absent speech Dental crowding Ventricular extrasystoles Myoclonus EEG abnormality Coloboma Absent radius Generalized tonic-clonic seizures Absence seizures Abnormality of the hand Toe syndactyly Inability to walk Everted lower lip vermilion Short foot Generalized myoclonic seizures Epileptic encephalopathy Open mouth Broad-based gait Heterotopia Stereotypy Short chin Febrile seizures Congenital cataract Flexion contracture Genu valgum Midline defect of the nose Parietal bossing Semilobar holoprosencephaly Alobar holoprosencephaly Hypoplasia of the premaxilla Absent nasal septal cartilage Fusion of the left and right thalami Flat nasal alae Polydactyly Postaxial polydactyly Median cleft lip and palate Urinary incontinence Abnormal vertebral morphology Recurrent pneumonia Sandal gap Drooling Preaxial polydactyly Short middle phalanx of finger Slender long bone Diastema Cervical ribs Single median maxillary incisor Bilateral microphthalmos Square face Agenesis of corpus callosum Intrauterine growth retardation Delayed skeletal maturation Short metacarpal Abnormality of the ribs Hypoplasia of the radius Cortical gyral simplification Dislocated radial head Patellar aplasia Hydrocephalus Microphthalmia Oral cleft Panhypopituitarism Prominent nose Hypotelorism Omphalocele Holoprosencephaly Flat occiput Partial agenesis of the corpus callosum Bilateral cleft lip Depressed nasal tip Bilateral cleft lip and palate Broad face Accessory oral frenulum Small forehead Prominent eyelashes Broad eyebrow Nail dystrophy Thin vermilion border Flat face Sparse scalp hair Mild short stature Delayed cranial suture closure Pericarditis Arnold-Chiari type I malformation Shallow orbits Broad philtrum Craniofacial asymmetry Mandibular prognathia Syndactyly Gastroesophageal reflux Pectus carinatum Intestinal malrotation Hemivertebrae Cutis marmorata Slender finger Submucous cleft hard palate Exostoses Vertebral clefting Camptodactyly Brachycephaly Agenesis of incisor Sparse hair Nystagmus Visual impairment Hypertension Cerebellar atrophy Alopecia Rod-cone dystrophy Diabetes mellitus Glaucoma Hypothyroidism Low-set, posteriorly rotated ears Delayed myelination Cerebral atrophy Short palpebral fissure Progressive hearing impairment Corneal dystrophy Congenital hypothyroidism Broad columella Wide nasal base Broad distal phalanx of finger Cataract Abnormality of the dentition Malar flattening Aplasia of the 1st metacarpal



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