Brachydactyly, and Short nose

Diseases related with Brachydactyly and Short nose

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


Top matches:

Medium match CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE


Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.

CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE Is also known as gpapp deficiency

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE

Medium match AL-RAQAD SYNDROME; ARS


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL-RAQAD SYNDROME; ARS

Medium match ACROMICRIC DYSPLASIA


Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.

Related symptoms:

  • Short stature
  • Growth delay
  • Abnormal facial shape
  • Brachydactyly
  • Anteverted nares


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ACROMICRIC DYSPLASIA

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Other less relevant matches:

Medium match ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM


The Maroteaux type of mesomelic sysplasia is an autosomal recessive disorder characterized by severe dwarfism (height below 120 cm) with shortening of the middle and distal segments of the limbs. This condition is usually diagnosed at birth and becomes more obvious in the first 2 years of life. X-rays show short broad fingers, square flat feet, and shortening of the long bones (particularly the forearms). The radius is bowed; the ulna is shorter than the radius, and its distal end is occasionally hypoplastic. The skull is dolichocephalic and a shortness of the trunk, with decreased vertebral height and narrowing of the lumbar interpedicular distances, is consistently observed. Facial appearance and intelligence are normal (summary by Faivre et al., 2000).

ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM Is also known as st. helena dysplasia

Related symptoms:

  • Brachydactyly
  • Frontal bossing
  • Short nose
  • Severe short stature
  • Prominent forehead


SOURCES: OMIM MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM

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 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 COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME


COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME Is also known as chops syndrome|cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME

Medium match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2


Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2

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

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Thin upper lip vermilion Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Long philtrum Wide nasal bridge Anteverted nares Upslanted palpebral fissure Hypertelorism Narrow mouth High forehead Flat face Low-set ears Short phalanx of finger Skeletal dysplasia Severe short stature Frontal bossing Sensorineural hearing impairment Proptosis Growth delay Smooth philtrum Microcephaly Midface retrusion Short metacarpal

Rare Symptoms - Less than 30% cases


Depressed nasal tip Micrognathia Radioulnar synostosis Camptodactyly Clinodactyly Gastroesophageal reflux Thick eyebrow Epicanthus Ovoid vertebral bodies Downslanted palpebral fissures Macrocephaly Abnormality of the dentition Ptosis Dental malocclusion Highly arched eyebrow Round face Cleft lip Depressed nasal bridge Short foot Long eyelashes Posteriorly rotated ears Deeply set eye Short toe Abnormal cardiac septum morphology Seizures Abnormality of the skeletal system Cryptorchidism Cataract Intellectual disability, mild Cleft palate Joint laxity Motor delay Broad thumb Chronic lung disease Progressive hearing impairment Thick hair Obesity Recurrent aspiration pneumonia Short palpebral fissure Delayed myelination Hernia Broad nasal tip Sparse hair Tracheal stenosis Corneal dystrophy Aspiration pneumonia Downturned corners of mouth Patent ductus arteriosus Optic atrophy Pneumonia Broad distal phalanx of finger Coarse facial features Wide nasal base Vesicoureteral reflux Laryngomalacia Broad columella Abnormal lung morphology Abnormal vertebral morphology Aspiration Horseshoe kidney Congenital hypothyroidism Cognitive impairment Triangular mouth Micropenis Hyperactivity Tented upper lip vermilion Mild short stature Delayed cranial suture closure Pericarditis Arnold-Chiari type I malformation Shallow orbits Broad philtrum Broad eyebrow Craniofacial asymmetry Syndactyly Clinodactyly of the 5th finger Attention deficit hyperactivity disorder Tapered finger Pectus carinatum Synophrys Intestinal malrotation Hemivertebrae Finger clinodactyly Cutis marmorata Short femoral neck Slender finger Submucous cleft hard palate Exostoses Vertebral clefting Sparse scalp hair Thin vermilion border Umbilical hernia Mesomelia Conductive hearing impairment Wide mouth Short distal phalanx of finger Otitis media Overgrowth Limb undergrowth Dental crowding Gingival overgrowth Increased bone mineral density Oligodontia Chronic otitis media Thickened calvaria Congenital cataract Generalized osteosclerosis Narrow naris Hypothyroidism Mesomelic short stature Narrow nasal tip Otitis media with effusion Malar flattening Cerebral atrophy Brachycephaly Mandibular prognathia Microtia Nail dystrophy Low-set, posteriorly rotated ears Median cleft lip and palate Glaucoma Prominent forehead Short long bone Deep philtrum Decreased nerve conduction velocity Cone-shaped epiphysis Abnormal eyebrow morphology Abnormality of femur morphology Constrictive median neuropathy Fifth metacarpal with ulnar notch Internal notch of the femoral head Pes planus Hoarse voice Falls Lumbar hyperlordosis Hypoplasia of the radius Growth abnormality Short metatarsal Flared metaphysis Limited elbow extension Disproportionate short stature Cone-shaped epiphyses of the phalanges of the hand Radial bowing Narrow palpebral fissure Abnormality of epiphysis morphology Thoracolumbar kyphosis Inability to walk Genu valgum Joint dislocation Carpal synostosis Patellar dislocation Coronal craniosynostosis Generalized hypotonia Absent speech Neonatal hypotonia Unsteady gait Hypopigmentation of the skin Thickened skin Sandal gap Hyperplasia of the maxilla Delayed skeletal maturation Respiratory tract infection Joint stiffness Bulbous nose Short palm Thick vermilion border Small hand Thick lower lip vermilion Beaking of vertebral bodies Long hallux Diabetes mellitus Absent nasal septal cartilage Broad face Panhypopituitarism Bilateral microphthalmos Single median maxillary incisor Midline defect of the nose Parietal bossing Semilobar holoprosencephaly Alobar holoprosencephaly Hypoplasia of the premaxilla Fusion of the left and right thalami Bilateral cleft lip Flat nasal alae Nystagmus Strabismus Delayed speech and language development Visual impairment Hypertension Myopia Cerebellar atrophy Alopecia Rod-cone dystrophy Bilateral cleft lip and palate Median cleft lip Short nail Microphthalmia Broad finger Broad metatarsal Broad phalanx Broad metacarpals Acromesomelia Lower thoracic kyphosis Thoracolumbar interpediculate narrowness Redundant skin on fingers High palate Hydrocephalus Agenesis of corpus callosum Partial agenesis of the corpus callosum Macrotia Protruding ear Broad forehead Oral cleft Iris coloboma Prominent nose Hypotelorism Omphalocele Holoprosencephaly Flat occiput Prominent eyelashes



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