Brachydactyly, and Broad nasal tip

Diseases related with Brachydactyly and Broad nasal tip

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


Top 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 SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME


SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME Is also known as sbidds

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME

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

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Other less relevant matches:

Medium match CHAR SYNDROME


Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

CHAR SYNDROME Is also known as patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHAR SYNDROME

Medium match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BIEGANSKI TYPE


Spondyloepimetaphyseal dysplasia, Bieganski type is a rare primary bone dysplasia disorder characterized by infantile-onset, progressive, multiple skeletal deformities in association with slowly progressive central and peripheral neurodegeneration. Patients present short stature, coarse facies, psychomotor regression and cognitive impairment. Imaging shows abnormally-shaped vertebral bodies, small, flat epiphyses, and widened metaphyses, as well as cerebral and cerebellar atrophy and progressive axonal-hypomyelinating neuropathy.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BIEGANSKI TYPE Is also known as semd, x-linked, with mental deterioration

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hypertelorism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BIEGANSKI TYPE

Medium match INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME


Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).

INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME Is also known as mrd37|mental retardation, autosomal dominant 37

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME

Medium match OROFACIODIGITAL SYNDROME TYPE 2


Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.

OROFACIODIGITAL SYNDROME TYPE 2 Is also known as oral-facial-digital syndrome, type ii|ofd2|orofaciodigital syndrome ii|oral-facial-digital syndrome type 2|ofds ii|mohr syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 2

Medium match SPONDYLOCARPOTARSAL SYNOSTOSIS


Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.

SPONDYLOCARPOTARSAL SYNOSTOSIS Is also known as synspondylism, congenital|synspondylism|vertebral fusion with carpal coalition|scoliosis, congenital, with unilateral unsegmented bar|spondylocarpotarsal syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOCARPOTARSAL SYNOSTOSIS

Medium match DUPLICATION/INVERSION 15Q11


The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.

DUPLICATION/INVERSION 15Q11 Is also known as invdup(15)|non-distal tetrasomy 15q|isodicentric 15 chromosome|non-telomeric tetrasomy 15q|idic(15)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about DUPLICATION/INVERSION 15Q11

Medium match HYDRANENCEPHALY


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981).For a discussion of genetic heterogeneity of Kabuki syndrome, see KABUK1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDRANENCEPHALY

Top 5 symptoms//phenotypes associated to Brachydactyly and Broad nasal tip

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
High palate Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Broad nasal tip. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Depressed nasal bridge Microcephaly Hearing impairment Short neck Malar flattening Clinodactyly of the 5th finger Delayed myelination Scoliosis Myopia Low-set ears Long philtrum Anteverted nares Epicanthus Delayed speech and language development Ptosis Abnormality of the skeletal system Sensorineural hearing impairment Talipes equinovarus Cleft palate Recurrent otitis media Otitis media Short philtrum Wide nasal bridge Thin upper lip vermilion Hyperactivity Hernia Feeding difficulties Posteriorly rotated ears Midface retrusion Short nose Deeply set eye

Rare Symptoms - Less than 30% cases


Constipation Autistic behavior Narrow mouth Ventricular septal defect Downslanted palpebral fissures Autism Pes planus Telecanthus Joint hypermobility Craniosynostosis Clinodactyly Syndactyly Behavioral abnormality Natal tooth Hypoplasia of the odontoid process Wormian bones Delayed skeletal maturation Cerebral atrophy Hypoplasia of the corpus callosum Severe short stature Coarctation of aorta Abnormality of cardiovascular system morphology Hypodontia Thick eyebrow Protruding ear Polydactyly Brachycephaly Joint laxity Atrioventricular canal defect Highly arched eyebrow Pointed chin Flexion contracture Cerebellar atrophy Low-set, posteriorly rotated ears High forehead Short palpebral fissure Upslanted palpebral fissure Growth delay Cryptorchidism Rod-cone dystrophy Intellectual disability, mild Astigmatism Frontal bossing Short palm Bilateral postaxial polydactyly Hydrocephalus Preaxial foot polydactyly Bifid nasal tip Short 5th finger Abnormality of the larynx Complete atrioventricular canal defect Porencephalic cyst Accessory oral frenulum Depressed nasal tip Prominent fingertip pads Abnormality of finger Lobulated tongue Common atrium Hypoplasia of the epiglottis Tongue nodules Short columella Abnormality of the breast Micrognathia Mesoaxial polydactyly Talon cusp Agenesis of central incisor Bifid tongue Postaxial foot polydactyly Postaxial polydactyly Tachypnea Long hallux Hypoplasia of the maxilla Abnormal cerebellum morphology Sparse lateral eyebrow Apnea Cleft lip Conductive hearing impairment Bifid uvula Limb undergrowth Postaxial hand polydactyly Preaxial polydactyly Arachnoid cyst Metaphyseal irregularity Preaxial hand polydactyly Flared metaphysis Generalized joint laxity Abnormality of digit Cataract Agenesis of corpus callosum Median cleft lip Abnormal heart morphology Pectus excavatum Partial duplication of the phalanges of the hallux Renal cyst Neonatal hypoglycemia Hypogonadism Basilar impression Block vertebrae Capitate-hamate fusion Facial hypotonia Cervical spine instability Atrial septal defect Bowed humerus Severe receptive language delay Short nasal septum C2-C3 subluxation Absent speech Aggressive behavior Delayed ossification of carpal bones Self-biting Severe expressive language delay Abnormality of brain morphology Synophrys Echolalia Gonadal dysgenesis Neurodevelopmental delay 2-3 toe syndactyly Unilateral renal agenesis Precocious puberty Tetralogy of Fallot Stereotypy Platybasia Feeding difficulties in infancy Abnormality of the kidney Central hypotonia Hyperlordosis Drooling Round face Abnormality of the ribs Hypoplasia of dental enamel Abnormality of retinal pigmentation Abnormal vertebral morphology Preauricular skin tag Abnormality of pelvic girdle bone morphology Epiphyseal dysplasia Mesomelia Restrictive ventilatory defect Mixed hearing impairment Broad face Long palpebral fissure Tarsal synostosis Disproportionate short stature Cupped ear Carpal synostosis Disproportionate short-trunk short stature Long eyelashes Decreased body weight Dental malocclusion Hirsutism Large forehead Pulmonic stenosis Hypoglycemic seizures Short finger Abnormality of visual evoked potentials Obsessive-compulsive behavior Frontal hirsutism Diarrhea Kyphosis Anxiety Blepharophimosis Attention deficit hyperactivity disorder Microtia Prominent nasal bridge Long face Hypertrichosis Hoarse voice Toe walking Pseudohypoparathyroidism Hyperventilation Microtia, first degree Tall chin Congestive heart failure Patent ductus arteriosus Broad forehead Toe syndactyly Thick vermilion border Everted lower lip vermilion Sleep disturbance Premature birth Depressed nasal ridge Infra-orbital crease Underdeveloped supraorbital ridges Bicuspid aortic valve Corneal dystrophy Nystagmus Visual impairment Motor delay Hypertension Alopecia Diabetes mellitus Glaucoma Hypothyroidism Sparse hair Broad thumb Progressive hearing impairment Congenital hypothyroidism Delayed ability to walk Broad columella Wide nasal base Broad distal phalanx of finger Intrauterine growth retardation Obesity Retrognathia Severe global developmental delay Thin vermilion border Short foot Short metacarpal Laryngomalacia Short metatarsal Finger clinodactyly Coarse hair Self-injurious behavior Gastroesophageal reflux Flattened epiphysis Subcortical cerebral atrophy Prominent sternum Anterior rib cupping Metaphyseal cupping of metacarpals Widened subarachnoid space Cone-shaped capital femoral epiphysis Peg-like central prominence of distal tibial metaphyses Optic atrophy Blindness Mandibular prognathia Coloboma Flared iliac wings Hypermetropia Iris coloboma Downturned corners of mouth Focal-onset seizure Bilateral sensorineural hearing impairment Congenital diaphragmatic hernia Open mouth Cerebral visual impairment Abnormality of the outer ear Cone/cone-rod dystrophy Abnormal electroretinogram Focal impaired awareness seizure Small epiphyses Delayed CNS myelination Hand polydactyly Dysarthria Supernumerary nipple Prominent occiput Short middle phalanx of the 5th finger Persistence of primary teeth Triangular mouth Mesoaxial hand polydactyly No permanent dentition Parasomnia Muscular ventricular septal defect Symphalangism of the 5th finger Mesoaxial foot polydactyly Distal/middle symphalangism of 5th finger Coarse facial features Spondyloepimetaphyseal dysplasia Platyspondyly Optic disc pallor Abnormality of the face Low anterior hairline Coxa vara Intellectual disability, progressive Metaphyseal widening Short femoral neck Broad palm Thin ribs Broad foot Thoracic kyphosis Eversion of lateral third of lower eyelids



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