Brachydactyly, and Wide nose

Diseases related with Brachydactyly and Wide nose

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


Top matches:

Medium match MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2


Related symptoms:

  • Brachydactyly
  • Talipes equinovarus
  • Wide nose
  • Vertebral fusion
  • Tarsal synostosis


SOURCES: OMIM MESH MENDELIAN

More info about MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2

Medium match COFFIN-SIRIS SYNDROME 7; CSS7


Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 7; CSS7

Medium match COFFIN-SIRIS SYNDROME 2; CSS2


Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).The chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies.

COFFIN-SIRIS SYNDROME 2; CSS2 Is also known as mrd14|mental retardation, autosomal dominant 14

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 2; CSS2

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Other less relevant matches:

Medium match PFEIFFER SYNDROME


Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome.

PFEIFFER SYNDROME Is also known as acrocephalosyndactyly, type v|noack syndrome|acs5|acs v

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about PFEIFFER SYNDROME

Medium match SILLENCE SYNDROME


Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.

SILLENCE SYNDROME Is also known as synostoses, multiple, with brachydactyly|symphalangism-brachydactyly syndrome|wl syndrome|brachydactyly-symphalangism syndrome|facioaudiosymphalangism syndrome|deafness-symphalangism syndrome of herrmann

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Strabismus
  • Epicanthus
  • Brachydactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about SILLENCE SYNDROME

Medium match ANDERSEN-TAWIL SYNDROME


Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ANDERSEN-TAWIL SYNDROME

Medium match MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME


Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.

MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME Is also known as mic-cap syndrome|microcephaly-cutaneous capillary malformation syndrome|mic-cm syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME

Medium match HYPERTELORISM, TEEBI TYPE


Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia (see this term), such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes (see these terms).

HYPERTELORISM, TEEBI TYPE Is also known as brachycephalofrontonasal dysplasia|craniofrontonasal dysplasia, teebi type|teebi syndrome|teebi hypertelorism syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERTELORISM, TEEBI TYPE

Medium match AUTOSOMAL DOMINANT ROBINOW SYNDROME


Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT ROBINOW SYNDROME

Medium match 22Q11.2 MICRODUPLICATION SYNDROME


The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.

22Q11.2 MICRODUPLICATION SYNDROME Is also known as duplication 22q11.2|chromosome 22q11.2 microduplication syndrome|trisomy 22q11.2|dup(22)(q11)

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 22Q11.2 MICRODUPLICATION SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Wide nose

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Ptosis Scoliosis Thin upper lip vermilion Clinodactyly Downslanted palpebral fissures Micrognathia Strabismus Generalized hypotonia Global developmental delay Epicanthus Delayed speech and language development Wide nasal bridge Short nose Abnormal facial shape Prominent forehead Feeding difficulties Microcephaly Anteverted nares Pectus excavatum Hypoplasia of the maxilla High forehead Poor speech Clinodactyly of the 5th finger Finger syndactyly Proptosis Midface retrusion Cleft palate Seizures Specific learning disability Ventricular septal defect Craniosynostosis Thick eyebrow Long palpebral fissure

Rare Symptoms - Less than 30% cases


Natal tooth Downturned corners of mouth Broad thumb Short toe Toe syndactyly Short palm Broad forehead Conductive hearing impairment Mandibular prognathia Cryptorchidism Short neck Syndactyly Frontal bossing High palate Ankylosis Failure to thrive Long philtrum Umbilical hernia Retrognathia High, narrow palate Arrhythmia Short finger 2-3 toe syndactyly Broad nasal tip Oligodontia Hypospadias Hydronephrosis Tetralogy of Fallot Narrow face Short metacarpal Pectus carinatum Short philtrum Joint laxity Thin vermilion border Hypermetropia Carpal synostosis Posteriorly rotated ears Proximal symphalangism Thick vermilion border Coarse facial features Constipation Highly arched eyebrow Small nail Abnormality of the pinna Tarsal synostosis Long eyelashes Neurological speech impairment Arnold-Chiari malformation Sparse scalp hair Humeroradial synostosis Abnormality of cardiovascular system morphology Otitis media Wide mouth Brachycephaly Cleft lip Patent ductus arteriosus Prominent nasal bridge Oral cleft Everted lower lip vermilion Round face Short chin Vertebral fusion Broad palm Dimple chin Advanced eruption of teeth Abnormality of the helix Widow's peak Lipoma Sprengel anomaly Shawl scrotum High hypermetropia Congenital diaphragmatic hernia Ectopic kidney Preauricular pit Bilateral cryptorchidism Heart murmur Deep philtrum Atrioventricular block Finger clinodactyly Omphalocele Hernia Absent fifth fingernail Atrial septal defect Aggressive behavior Delayed myelination Short distal phalanx of finger Severe global developmental delay Small for gestational age Intellectual disability, moderate Muscular hypotonia of the trunk Myoclonus Sloping forehead Cerebral atrophy Hypoplasia of the corpus callosum Feeding difficulties in infancy Optic atrophy Intrauterine growth retardation Spasticity Vesicoureteral reflux Oligohydramnios Finger symphalangism Right ventricular hypertrophy Abnormality of the skeletal system Abnormal heart morphology Female pseudohermaphroditism Abnormal hair whorl Hemiclonic seizures Capillary malformation Short 5th finger Ventricular hypertrophy Central hypotonia Cortical gyral simplification Patent foramen ovale Spastic tetraparesis Progressive microcephaly Wide anterior fontanel Tetraparesis Broad eyebrow Severe short stature Macrocephaly Stereotypy Stridor Nasal speech Laryngomalacia Abnormality of the genitourinary system Sleep apnea Situs inversus totalis Depressed nasal ridge Hypoplastic left heart Gastrointestinal hemorrhage Smooth philtrum Attention deficit hyperactivity disorder Apnea Anxiety Autism Behavioral abnormality Obsessive-compulsive behavior Transposition of the great arteries Muscular hypotonia Urethral stenosis Subependymal cysts Aplasia/Hypoplasia of the thymus Displacement of the external urethral meatus Persistent left superior vena cava Common atrium Anterior creases of earlobe Velopharyngeal insufficiency Total anomalous pulmonary venous return Abnormality of immune system physiology Abnormality of the pharynx Interrupted aortic arch Heterotaxy Anomalous pulmonary venous return Abdominal situs inversus Dyslexia Double outlet right ventricle Intellectual disability, severe Growth delay Inguinal hernia Hypoplasia of penis Sacral dimple Coxa vara Coxa valga Hemivertebrae Gingival overgrowth Abnormal form of the vertebral bodies Blue sclerae Hip dysplasia Open bite Hypodontia Micromelia Hip dislocation Camptodactyly of finger Upslanted palpebral fissure Prominent frontal sinuses Alopecia Elbow dislocation Increased number of teeth Onychogryposis of fingernail Clitoral hypoplasia Naevus flammeus of the eyelid Euryblepharon Abnormality of the penis Ridged fingernail Curly eyelashes Hypoplastic labia minora Abnormality of the gingiva Median cleft lip and palate Capillary hemangioma Epispadias Fingernail dysplasia Femoral hernia Avascular necrosis of the capital femoral epiphysis Bifid tongue Hypoplastic labia majora Anodontia Aplasia/Hypoplasia of the maxilla Short mandibular rami Bidirectional ventricular ectopy Single transverse palmar crease Abnormality of the nail Visual impairment Abnormal vertebral morphology Waddling gait Underdeveloped nasal alae Motor delay Short foot Back pain Platyspondyly Recurrent infections Camptodactyly Pes cavus Delayed skeletal maturation Agenesis of corpus callosum Cartilaginous trachea Abnormal dermatoglyphics Cubitus valgus Bicoronal synostosis Spinal canal stenosis Short sternum Slender build Short 1st metacarpal Thick upper lip vermilion Flat acetabular roof Short hallux Short humerus Radial deviation of finger Dislocated radial head Cutaneous finger syndactyly Sagittal craniosynostosis Anonychia Metatarsus adductus Small pituitary gland Short middle phalanx of finger Short middle phalanx of toe Shortening of all middle phalanges of the fingers Aplastic/hypoplastic toenail Low anterior hairline Choanal atresia Epidermal acanthosis Convex nasal ridge Macroglossia Thick lower lip vermilion Hypertrichosis Polydactyly Short thumb Abnormal corpus callosum morphology Dilatation Shortening of all distal phalanges of the fingers Aplasia/Hypoplasia of the distal phalanges of the hand Abnormality of the dentition Hydrocephalus Prominent interphalangeal joints Dental crowding Acanthosis nigricans Broad phalanx Oxycephaly Elbow ankylosis Brachyturricephaly Craniofacial dysostosis Long hallux Bronchomalacia Anterior plagiocephaly Cloverleaf skull Atresia of the external auditory canal Tracheal stenosis Choanal stenosis Coronal craniosynostosis Shallow orbits Sparse hair Broad hallux Preaxial polydactyly Short upper lip Short lower limbs Antegonial notching of mandible Scapular winging Growth abnormality Ventricular arrhythmia Abnormal cardiac septum morphology Reduced tendon reflexes Abnormal palate morphology Ventricular tachycardia Bilateral single transverse palmar creases Myotonia Cardiac arrest Short phalanx of finger Hypoplasia of dental enamel Palpitations Febrile seizures Syncope Sudden cardiac death Short metatarsal Right bundle branch block Small hand First degree atrioventricular block Muscle fiber tubular inclusions Effort-induced polymorphic ventricular tachycardias Periodic hypokalemic paresis Absent fifth toenail Short digit Clinodactyly of the 5th toe Delayed eruption of permanent teeth Prolonged QT interval Periodic paralysis Abnormal T-wave Abnormal atrioventricular conduction Torsade de pointes T-wave inversion Left bundle branch block Ventricular extrasystoles Triangular face Microdontia Lower limb undergrowth Large iliac wings Cervical spinal canal stenosis Intervertebral disc degeneration Stapes ankylosis Distal symphalangism Absent distal interphalangeal creases Abnormality of the distal phalanx of finger Absent distal phalanges Bulbous tips of toes Enlargement of the costochondral junction Proximal symphalangism of hands Broad metacarpals Broad metatarsal Aplasia of the middle phalanx of the hand Aplasia/Hypoplasia of the middle phalanges of the hand Oval face Hypoplastic nasal septum Progressive conductive hearing impairment Bulbous nose Depressivity Talipes equinovarus Limb muscle weakness Dolichocephaly Dilated cardiomyopathy Recurrent otitis media Elevated serum creatine phosphokinase Trigonocephaly Malar flattening Large tarsal bones Cognitive impairment Broad philtrum Abnormality of the proximal phalanx of the hallux Abnormality of the proximal phalanges of the hand Fusion of midphalangeal joints Hypoplastic spinal processes Chess-pawn distal phalanges Bilateral trilobed lungs



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