Depressed nasal bridge, and Clinodactyly of the 5th finger

Diseases related with Depressed nasal bridge and Clinodactyly of the 5th finger

In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Clinodactyly of the 5th finger that can help you solving undiagnosed cases.


Top matches:

High match LÉRI-WEILL DYSCHONDROSTEOSIS


Léri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term).

LÉRI-WEILL DYSCHONDROSTEOSIS Is also known as lÉri-weill syndrome

Related symptoms:

  • Depressed nasal bridge
  • Brachydactyly
  • Wide nasal bridge
  • Clinodactyly of the 5th finger
  • Joint stiffness


SOURCES: ORPHANET MENDELIAN

More info about LÉRI-WEILL DYSCHONDROSTEOSIS

High match DWARFISM WITH TALL VERTEBRAE


Related symptoms:

  • Short stature
  • Depressed nasal bridge
  • Intrauterine growth retardation
  • Frontal bossing
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about DWARFISM WITH TALL VERTEBRAE

High 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

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Other less relevant matches:

High match CORNELIA DE LANGE SYNDROME 3; CDLS3


Cornelia de Lange syndrome is a multisystem developmental disorder characterized by distinctive facial dysmorphism, pre- and postnatal growth failure, delayed psychomotor development and intellectual disability, hypertrichosis, and sometimes distal limb malformations (summary by Gil-Rodriguez et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 3; CDLS3

High match RAPP-HODGKIN SYNDROME; RHS


RAPP-HODGKIN SYNDROME; RHS Is also known as ectodermal dysplasia, anhidrotic, with cleft lip/palate

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about RAPP-HODGKIN SYNDROME; RHS

High match METATROPIC DYSPLASIA


Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

METATROPIC DYSPLASIA Is also known as metatropic dwarfism

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about METATROPIC DYSPLASIA

High 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

High match PERIPHERAL DYSOSTOSIS


Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERIPHERAL DYSOSTOSIS

High match CLEIDOCRANIAL DYSPLASIA


Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA

High match FIBROCHONDROGENESIS


Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBROCHONDROGENESIS

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Clinodactyly of the 5th finger

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Brachydactyly Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Anteverted nares Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Depressed nasal bridge and Clinodactyly of the 5th finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Malar flattening Hypertelorism Long philtrum Midface retrusion Skeletal dysplasia Wide nasal bridge Syndactyly Global developmental delay Myopia Small hand Short ribs Thick eyebrow Short nose Mandibular prognathia Severe short stature Hypospadias High forehead Short neck Hypoplasia of the maxilla Abnormality of the skeletal system Frontal bossing Scoliosis Ptosis Narrow chest Abnormality of the metaphysis Micromelia Joint stiffness Limb undergrowth Abnormality of the ribs

Rare Symptoms - Less than 30% cases


Hearing abnormality Finger clinodactyly Dystrophic fingernails Broad nasal tip Hypodontia Highly arched eyebrow Protruding ear Broad forehead Dystrophic toenail Abnormality of epiphysis morphology Polydactyly Clinodactyly Wormian bones Ventricular septal defect Downslanted palpebral fissures Coarse hair Intellectual disability Supernumerary nipple Genu valgum Narrow mouth Conductive hearing impairment Round face Cleft lip Short foot Delayed eruption of teeth Bifid uvula Bifid tongue Underdeveloped nasal alae Brachycephaly Abnormality of the dentition High palate Growth delay Abnormal facial shape Abnormality of dental enamel Low-set ears Hypoplastic scapulae Abnormal form of the vertebral bodies Pectus excavatum Abnormality of pelvic girdle bone morphology Platyspondyly Camptodactyly of finger Cone-shaped epiphysis Hypoplastic fingernail Coxa vara Cataract Intrauterine growth retardation Short palm Osteoarthritis Spina bifida occulta Hydrocephalus Respiratory insufficiency Common atrium Snail-like ilia Absent primary metaphyseal spongiosa Lobulated tongue Hypoplasia of the epiglottis Flared humeral metaphysis Generalized hypotonia Bilateral postaxial polydactyly Talipes equinovarus Relatively short spine Abnormal cerebellum morphology Tongue nodules Mesoaxial polydactyly Talon cusp Short diaphyses Agenesis of central incisor Abnormal metaphyseal vascular invasion Partial duplication of the phalanges of the hallux Cryptorchidism Delayed speech and language development Hypertension Epicanthus Long coccyx Dumbbell-shaped metaphyses Hyperplasia of the femoral trochanters Accessory oral frenulum Preaxial foot polydactyly Porencephalic cyst Flared metaphysis Severe platyspondyly Cervical instability Postaxial hand polydactyly Postaxial polydactyly Pseudoarthrosis Caudal appendage Tachypnea Preaxial polydactyly Abnormal enchondral ossification Apnea Telecanthus Metaphyseal irregularity Halberd-shaped pelvis Preaxial hand polydactyly Agenesis of corpus callosum Complete atrioventricular canal defect Arachnoid cyst Abnormality of the larynx Bifid nasal tip Diabetes mellitus Cerebellar atrophy Abnormality of finger Postaxial foot polydactyly Hypoplastic cervical vertebrae Atrioventricular canal defect Median cleft lip Abnormal heart morphology Natal tooth Abnormality of digit Flared femoral metaphysis Anisospondyly Obesity Recurrent respiratory infections Hyperactivity Flat face Short long bone Plagiocephaly Joint contracture of the hand Hydrops fetalis Wide anterior fontanel Rhizomelia Omphalocele High myopia Pectus carinatum Hypoplastic toenails Abnormality of the pinna Camptodactyly Proptosis Neck muscle hypoplasia Cervical segmentation defect Short face Shoulder muscle hypoplasia Hypoplastic inferior ilia Patent foramen ovale Thoracic hypoplasia Cervical C2/C3 vertebral fusion Broad long bones Posterior vertebral hypoplasia Widely patent coronal suture Pear-shaped vertebrae Broad ischia Dumbbell-shaped long bone Posterior rib cupping Thin clavicles Narrow greater sacrosciatic notches Anterior rib cupping Thin ribs Long clavicles Hypoplastic ischia Abnormal diaphysis morphology Metaphyseal cupping Broad ribs Bell-shaped thorax Megalocornea Protuberant abdomen Fibular hypoplasia Rib segmentation abnormalities Abnormal sacrum morphology Autism Mild short stature Chronic rhinitis Red hair Fair hair Blue irides Cone-shaped epiphyses of the phalanges of the hand Rhinitis Spinal canal stenosis Congenital hypothyroidism Short metatarsal Long thorax Increased intracranial pressure Accelerated skeletal maturation Type I diabetes mellitus Short phalanx of finger Eczema Short metacarpal Asthma Hypothyroidism Macrocephaly Osteoporosis Dimple chin Open bite Abnormality of the thumb Decreased skull ossification Down-sloping shoulders Hypoplasia of the zygomatic bone Glossoptosis Sprengel anomaly Short clavicles Increased number of teeth Chronic otitis media Carious teeth Abnormality of the metacarpal bones Sleep apnea Hemivertebrae Sinusitis Large fontanelles Sloping forehead Recurrent fractures Tapered finger High, narrow palate Abnormality of the intervertebral disk Submucous cleft soft palate Thoracic kyphoscoliosis Toe syndactyly Depressed nasal ridge Coarctation of aorta Premature birth Sleep disturbance Everted lower lip vermilion Thick vermilion border Short philtrum Hand polydactyly Craniosynostosis Patent ductus arteriosus Abnormality of cardiovascular system morphology Intellectual disability, mild Congestive heart failure Strabismus Increased vertebral height Bicuspid aortic valve Prominent occiput Short 5th finger Distal/middle symphalangism of 5th finger Postnatal growth retardation Feeding difficulties in infancy Thin upper lip vermilion Gastroesophageal reflux Behavioral abnormality Cognitive impairment Microcephaly Mesoaxial foot polydactyly Short middle phalanx of the 5th finger Symphalangism of the 5th finger Muscular ventricular septal defect Parasomnia No permanent dentition Mesoaxial hand polydactyly Triangular mouth Persistence of primary teeth Hypoplastic pelvis Slender long bone Prominent nasal bridge Exostoses Abnormality of the humerus Patellar aplasia Abnormality of tibia morphology Abnormality of femur morphology Abnormality of the ulna Radial bowing Short tibia Abnormality of the hip bone Ulnar bowing Tibial bowing Mesomelia Hypoplasia of the ulna Elbow dislocation Hypoplasia of the radius Genu varum Disproportionate short-limb short stature Diaphyseal thickening Aplastic/hypoplastic toenail Short thorax Small for gestational age Scapular winging Pointed chin Decreased testicular size Triangular face Joint hypermobility Dolichocephaly Hip dislocation Hyperlordosis Madelung deformity Pes planus Delayed skeletal maturation Dorsal subluxation of ulna Limited wrist movement Abnormality of calvarial morphology Abnormality of the radius Abnormality of the carpal bones Abnormal cardiac septum morphology Pulmonic stenosis Rough bone trabeculation Hyperconvex fingernails Kyphosis Flexion contracture Decreased number of sweat glands Progressive alopecia Small, conical teeth Pili canaliculi Absent lacrimal punctum Trichodysplasia Respiratory failure Velopharyngeal insufficiency Hyperconvex nail Ankyloblepharon Hypohidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia Cystic renal dysplasia Dry hair Prominent forehead Kyphoscoliosis Conical tooth Abnormal joint morphology Spondylometaphyseal dysplasia Enlarged joints Flared iliac wings Abnormal cortical bone morphology Fetal akinesia sequence Aplasia/Hypoplasia of the lungs Hypoplasia of the odontoid process Short finger Low-set, posteriorly rotated ears Multiple joint contractures Akinesia Epiphyseal dysplasia Interphalangeal joint contracture of finger Peripheral axonal neuropathy Confusion Arthrogryposis multiplex congenita Thick nail Pili torti Synophrys Low anterior hairline Finger syndactyly Sparse hair Alopecia Limited elbow movement Thick hair Cutis marmorata Proximal placement of thumb Long eyelashes Cleft upper lip Hypertrichosis Downturned corners of mouth Hirsutism Bulbous nose Thin vermilion border Smooth philtrum Poor speech Hypotrichosis Pulmonary hypoplasia Hypoplastic labia majora Sparse eyelashes Narrow nose Generalized hyperpigmentation Submucous cleft hard palate Ectrodactyly Non-midline cleft lip Abnormality of the voice Widely spaced teeth Sparse and thin eyebrow Palmoplantar keratoderma Hypohidrosis Renal dysplasia Thin skin Recurrent otitis media Fine hair Small nail Ectodermal dysplasia Widely patent sagittal suture



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