Brachydactyly, and Esotropia

Diseases related with Brachydactyly and Esotropia

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


Top matches:

Low match X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE


X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE

Low match CORNELIA DE LANGE SYNDROME 2; CDLS2


Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 4 to 6% of patients have mutations in the X-linked SMC1A gene, whereas about 60% have mutations in the NIPBL gene (OMIM ) on chromosome 5p13 (CDLS1 ) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

CORNELIA DE LANGE SYNDROME 2; CDLS2 Is also known as cornelia de lange syndrome, x-linked|cdls, x-linked

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 2; CDLS2

Low match PRADER-WILLI SYNDROME DUE TO A POINT MUTATION


SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, intellectual disability (ID), hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene (summary by Fountain et al., 2017)

PRADER-WILLI SYNDROME DUE TO A POINT MUTATION Is also known as schaaf-yang syndrome|pws due to a point mutation|pwls|prader-willi-like syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME DUE TO A POINT MUTATION

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Other less relevant matches:

Low match MEND SYNDROME


MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

Low match TEMTAMY SYNDROME


Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

Low match OROFACIODIGITAL SYNDROME TYPE 6


Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation|vÁradi-papp syndrome|joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 6

Low match ACROCALLOSAL SYNDROME; ACLS


The acrocallosal syndrome is an autosomal recessive mental retardation syndrome with brain abnormalities such as corpus callosum agenesis and/or Dandy-Walker malformation as well as dysmorphic features, postaxial polydactyly of the hands, and preaxial polydactyly of the feet (Schinzel and Schmid, 1980). It is considered a ciliopathy (Putoux et al., 2011).Joubert syndrome-12 is a disorder with an overlapping phenotype characterized by the hallmark finding of the molar tooth sign (MTS) on brain MRI. For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.Hydrolethalus-2 (HLS2 ) is an allelic disorder with a more severe phenotype and death in utero.

ACROCALLOSAL SYNDROME; ACLS Is also known as hallux duplication, postaxial polydactyly, and absence of corpus callosum|schinzel acrocallosal syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME; ACLS

Low match ADAMS-OLIVER SYNDROME


Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Low match SMITH-MAGENIS SYNDROME; SMS


SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

Low match ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME


Weill-Marchesani syndrome is a rare connective tissue disorder characterized by microspherophakia, severe myopia, acute and/or chronic glaucoma, and cataract. Other features include brachydactyly and short stature. Patients may also have stiff joints and thickened skin, especially on the hands. Occasionally, cardiac defects or an abnormal heart rhythm is present (summary by Shah et al., 2014).For a discussion of genetic heterogeneity of Weill-Marchesani syndrome, see WMS1 (OMIM ).

ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME Is also known as wmsl|weill-marchesani-like syndrome|15q26.3 microdeletion syndrome

Related symptoms:

  • Short stature
  • Cataract
  • Brachydactyly
  • Myopia
  • Optic atrophy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Esotropia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Esotropia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Ventriculomegaly

Uncommon Symptoms - Between 30% and 50% cases


Clinodactyly

Common Symptoms - More than 50% cases


Hypoplasia of the corpus callosum

Uncommon Symptoms - Between 30% and 50% cases


Cleft palate

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Frontal bossing Cataract Micrognathia Strabismus Prominent nasal bridge Low-set ears Absent speech High palate Cryptorchidism Hypertelorism Abnormal heart morphology Agenesis of corpus callosum Dilatation Toe syndactyly Posteriorly rotated ears Narrow forehead Scoliosis Smooth philtrum EEG abnormality Wide intermamillary distance Gastroesophageal reflux Microcephaly Ataxia Feeding difficulties Myopia Anteverted nares Short nose Clinodactyly of the 5th finger Ventricular septal defect Syndactyly Ptosis Highly arched eyebrow Small hand Abnormality of the skeletal system Inguinal hernia Epicanthus Apnea Coloboma Polyhydramnios Deeply set eye Cleft upper lip Intrauterine growth retardation Abnormality of the kidney Microretrognathia Micropenis Abnormality of cardiovascular system morphology Downslanted palpebral fissures Talipes equinovarus Hearing impairment Cerebral cortical atrophy Nystagmus Intellectual disability, moderate Sensorineural hearing impairment Intellectual disability, severe Hypothyroidism Single transverse palmar crease Optic atrophy Autism Aggressive behavior Hyperactivity Dandy-Walker malformation Long face Abnormal cardiac septum morphology Open mouth Constipation Aplasia/Hypoplasia of the corpus callosum Finger clinodactyly Polydactyly Spasticity

Rare Symptoms - Less than 30% cases


Conductive hearing impairment Hyperlordosis Hernia Congestive heart failure Cleft lip Coarse facial features Retrognathia Pes planus Mandibular prognathia Tapered finger Obesity Long philtrum Microphthalmia Talipes Macrocephaly Sleep disturbance Microcornea Hydrocephalus Oral cleft Low-set, posteriorly rotated ears Aortic valve stenosis Sacral dimple Self-injurious behavior Renal agenesis Pachygyria Hypoplasia of teeth Decreased fetal movement Short palm Impulsivity Trigonocephaly Muscular hypotonia Poor suck Hypertonia Increased body weight Exotropia Atrial septal defect Midface retrusion Patent ductus arteriosus Postaxial polydactyly Hypertension Sparse hair Brachycephaly Short neck Preaxial foot polydactyly Protruding tongue Omphalocele Drooling Stereotypy Finger syndactyly Prominent forehead Cerebellar hypoplasia Wide nasal bridge Thick eyebrow Thin vermilion border Poor speech Severe global developmental delay Short philtrum Autistic behavior Postnatal growth retardation Muscular hypotonia of the trunk Neonatal hypotonia Abnormality of the dentition Gait ataxia Delayed speech and language development Synophrys Cognitive impairment Preaxial hand polydactyly Cutis marmorata Full cheeks Abnormal pulmonary valve morphology Preaxial polydactyly Molar tooth sign on MRI Partial agenesis of the corpus callosum Short foot Aortic regurgitation Abnormality of the pinna Umbilical hernia Cortical dysplasia Hypopigmentation of the fundus Central hypotonia Aplasia/Hypoplasia of the skin Triangular mouth Cutaneous finger syndactyly Hypoplastic left heart Aplasia cutis congenita Supernumerary nipple Oligodactyly Calvarial skull defect Pulmonary artery stenosis Duplication of phalanx of hallux Thrombocytopenia Leukemia Pulmonary valve defects Intracranial cystic lesion Bifid distal phalanx of the thumb Duplication of thumb phalanx Abnormality of the upper limb Double outlet right ventricle Pulmonary artery atresia Cerebral hypoplasia Pulmonic stenosis Hypoplastic fingernail Abnormality of the lower limb Arteriovenous malformation Abnormality of the metacarpal bones Portal hypertension Arachnoid cyst Broad forehead Anencephaly Split hand Hemiparesis External genital hypoplasia Abnormality of digit Small nail Pulmonary arterial hypertension Coarctation of aorta Telangiectasia Tetralogy of Fallot Nail dysplasia Gastrointestinal hemorrhage Short distal phalanx of finger Premature birth Ascites Encephalocele Meningitis Bicuspid aortic valve Wide anterior fontanel Anal atresia Retinal dystrophy Cirrhosis Bifid uvula Rectovaginal fistula Postaxial hand polydactyly Preauricular skin tag Prominent occiput Spontaneous abortion Diastasis recti Diabetes insipidus Polymicrogyria Osteopenia Postaxial foot polydactyly Leukopenia Alopecia Lethargy Esophageal varix Duodenal atresia Velopharyngeal insufficiency Everted upper lip vermilion Recurrent ear infections Cavum septum pellucidum Abnormal renal morphology Deep palmar crease Abnormality of the larynx Broad face Thick upper lip vermilion Bruxism Recurrent aspiration pneumonia Short attention span Chronic constipation Self-mutilation Overweight Drowsiness Impaired pain sensation Broad palm Abnormality of the immune system Progressive spastic paraplegia Abnormality of the thyroid gland Excessive daytime sleepiness Mood changes Abnormality of the urinary system Joint stiffness Retinal hole Microspherophakia Iridodonesis Mydriasis Anterior synechiae of the anterior chamber Increased intraocular pressure Ectopia lentis Thickened skin High myopia Glaucoma Hyperacusis Sleep-wake inversion Frequent temper tantrums Head-banging Abnormality of the forearm Midline brain calcifications Abnormal tracheobronchial morphology Morphological abnormality of the middle ear Abnormality of upper lip Pelvic kidney Premature atrial contractions Open bite Abnormality of the outer ear Congenital hepatic fibrosis Imperforate hymen Malar flattening Behavioral abnormality Edema Peripheral neuropathy Motor delay Pain Aplasia cutis congenita on trunk or limbs Aplasia cutis congenita over posterior parietal area Acrania Periventricular cysts Areflexia Cutis marmorata telangiectatica congenita Absent toe Venous malformation Absent fingernail Absent hand Aplastic/hypoplastic toenail Chylothorax Aplasia cutis congenita of scalp Periventricular leukomalacia Porencephalic cyst Abnormality of metabolism/homeostasis Hyporeflexia Hypercholesterolemia Macroglossia Lissencephaly Hoarse voice Abnormal vertebral morphology Sinusitis Hypoplasia of dental enamel Heterotopia Broad-based gait Hypertriglyceridemia Abnormality of the cardiovascular system Otitis media Delayed eruption of teeth Pes cavus Retinal detachment Nephropathy Falls Paresthesia Dry skin Microtia Paralysis Anxiety High forehead Upslanted palpebral fissure Hypospadias Relative macrocephaly Cerebral atrophy Short palpebral fissure Limited elbow extension Rocker bottom foot Akinesia Hyperinsulinemia Failure to thrive in infancy Pterygium Adducted thumb Sleep apnea Inability to walk Short humerus Arthrogryposis multiplex congenita Wide mouth Camptodactyly Hypoglycemia Hypogonadism Hyperhidrosis Depressivity Kyphosis Polyphagia Delayed ability to walk Respiratory insufficiency Intermittent hyperventilation Overfolded helix Narrow palpebral fissure Hypopigmentation of the skin Thick vermilion border Wide nose Bulbous nose Ichthyosis Skeletal dysplasia Narrow palm Hypoventilation Temperature instability Multiple pterygia Abnormality of the philtrum Excessive salivation Hyperinsulinemic hypoglycemia Misalignment of teeth Fetal akinesia sequence Hyperventilation Respiratory distress Flexion contracture Overlapping toe Tetraparesis Shawl scrotum Poor eye contact Abnormality of the musculature Long nose Coarse hair Tented upper lip vermilion Absence seizures Postnatal microcephaly Status epilepticus Recurrent respiratory infections Hypsarrhythmia Nephrotic syndrome Generalized-onset seizure Underdeveloped nasal alae Round face Urinary incontinence Generalized myoclonic seizures Macrotia Central hypothyroidism Thin upper lip vermilion Skull asymmetry Holoprosencephaly Curly eyelashes Semilobar holoprosencephaly Limited elbow movement Hemihypertrophy Enlarged cisterna magna Prominent metopic ridge Proximal placement of thumb Widely spaced teeth Low anterior hairline Hypertrophic cardiomyopathy Long eyelashes Decreased body weight Mitral regurgitation Ventricular hypertrophy Mitral valve prolapse Febrile seizures Downturned corners of mouth Hirsutism Respiratory tract infection 2-3 toe syndactyly Ectopic kidney Central Y-shaped metacarpal Cerebellar vermis hypoplasia Bilateral cryptorchidism Radial deviation of finger Hand polydactyly Polycystic kidney dysplasia Renal hypoplasia/aplasia Tachypnea Oculomotor apraxia Renal dysplasia Apraxia Abnormal retinal morphology Broad nasal tip Abnormal cerebellum morphology Feeding difficulties in infancy Abnormality of the nervous system Gait disturbance Tremor Fever Posterior staphyloma Abnormality of neuronal migration Tibial bowing Scleral staphyloma Mesoaxial polydactyly Midline notch of upper alveolar ridge Y-shaped metacarpals Occipital meningocele Mesoaxial hand polydactyly Hypoplasia of olfactory tract Bulimia Hypothalamic hamartoma Episodic tachypnea Tongue nodules Biparietal narrowing Hamartoma of tongue Lobulated tongue Abnormal oral frenulum morphology Accessory oral frenulum Short femur Meningocele Foot polydactyly Hamartoma Short 2nd toe Lop ear Broad hallux Visual impairment Dolichocephaly Hip dislocation Corneal opacity Mental deterioration Telecanthus Hydronephrosis Intellectual disability, mild Depressed nasal bridge Olivopontocerebellar hypoplasia Joint hyperflexibility Hypoplastic aortic arch Spotty hypopigmentation Long neck Otosclerosis Overlapping fingers Narrow nose Epiphyseal stippling Long fingers Facial asymmetry Iris coloboma Lens luxation Aortic aneurysm Short upper lip Colpocephaly Profound global developmental delay Neurogenic bladder Congenital nystagmus Bowing of the legs Unilateral renal agenesis Chorioretinal coloboma Genu varum Prominent nose Abnormal palate morphology Short chin Short toe Dental crowding Thick lower lip vermilion Intellectual disability, profound Bilateral sensorineural hearing impairment Progressive visual loss Convex nasal ridge Phakodonesis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Hypodontia, related diseases and genetic alterations Fever and Congenital cataract, related diseases and genetic alterations Edema and Gait ataxia, related diseases and genetic alterations Micrognathia and Hydrocephalus, related diseases and genetic alterations Hypertelorism and Spastic paraplegia, related diseases and genetic alterations Muscular hypotonia and Proteinuria, related diseases and genetic alterations

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