Brachydactyly, and Dental malocclusion

Diseases related with Brachydactyly and Dental malocclusion

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


Top matches:

Medium match CRANIOSYNOSTOSIS 3; CRS3


Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-3 includes coronal, sagittal, and multisuture forms (Sharma et al., 2013).For discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Strabismus
  • Ptosis
  • Brachydactyly
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 3; CRS3

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 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

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Other less relevant matches:

Medium match SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME


Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.

SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME Is also known as smd-crd

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME

Medium match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3


The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face' (summary by White et al., 2016).For a discussion of genetic heterogeneity in Robinow syndrome, see RRS (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3

Medium match ACHONDROPLASIA


Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

Medium match CLEIDOCRANIAL DYSPLASIA; CCD


The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation.See {168550} for a discussion of the combination of cleidocranial dysplasia and parietal foramina. Pycnodysostosis (OMIM ) and mandibuloacral dysplasia (OMIM ) are disorders to be considered in the differential diagnosis of cleidocranial dysplasia. Acroosteolysis and bone sclerosis with tendency to fracture are differentiating features of pycnodysostosis.Mundlos (1999) provided a review of the clinical features of cleidocranial dysplasia and the molecular basis of this disorder.

CLEIDOCRANIAL DYSPLASIA; CCD Is also known as clcd|cleidocranial dysostosis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA; CCD

Medium match CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME


Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

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

Medium match 15Q13.3 MICRODELETION SYNDROME


15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Dental malocclusion

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Frontal bossing Common - Between 50% and 80% cases
Midface retrusion Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Anteverted nares Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Scoliosis Cleft palate Strabismus Severe short stature Macrocephaly Depressed nasal bridge Seizures Abnormal facial shape Mesomelia Global developmental delay Depressed nasal tip Limb undergrowth Otitis media Proptosis Abnormality of the skeletal system Hearing impairment Conductive hearing impairment Cleft lip Short nose Wide nasal bridge Malar flattening Kyphosis Recurrent otitis media Micrognathia Hydrocephalus

Rare Symptoms - Less than 30% cases


Hyperlordosis Flared metaphysis Acanthosis nigricans Narrow chest Cryptorchidism Downslanted palpebral fissures Long eyelashes Abnormality of the dentition Long philtrum Clinodactyly Short palm Disproportionate short stature High forehead Skeletal dysplasia Coxa vara Visual impairment Rhizomelia Bowing of the long bones Short metacarpal Dental crowding Short phalanx of finger Gingival overgrowth Increased bone mineral density Chronic otitis media Joint stiffness Thickened calvaria Wormian bones Abnormality of the ribs Growth delay Failure to thrive Broad thumb Abnormal form of the vertebral bodies Microphthalmia Parietal bossing Thin upper lip vermilion Epicanthus High palate Agenesis of corpus callosum Microcephaly Partial agenesis of the corpus callosum Highly arched eyebrow Craniosynostosis Protruding ear Ptosis Upslanted palpebral fissure Short femoral neck Abnormality of the clavicle Increased number of teeth Neonatal respiratory distress Cone-shaped epiphysis Short clavicles Syringomyelia Cone-shaped epiphyses of the phalanges of the hand Cloverleaf skull Hypoplastic scapulae Hypoplastic iliac wing Osteolytic defects of the phalanges of the hand Increased susceptibility to fractures Spondylolisthesis Short middle phalanx of the 5th finger Aplastic clavicle Cervical ribs Delayed eruption of permanent teeth Parietal foramina Delayed eruption of primary teeth Absent frontal sinuses Hypoplastic frontal sinuses Prominent fingertip pads Hypoplasia of dental enamel Short ribs Long thorax Disproportionate short-limb short stature Short long bone Genu varum Abnormality of pelvic girdle bone morphology Schizophrenia Elbow dislocation Limited elbow extension Spinal canal stenosis Obstructive sleep apnea Abnormality of the elbow Large forehead Diaphyseal thickening Neonatal short-limb short stature Aplasia/hypoplasia of the extremities Abnormality of the breast Narrow sacroiliac notch Childhood onset short-limb short stature Abnormality of the ilium Acromelia Respiratory distress Eversion of lateral third of lower eyelids Mandibular prognathia Pes planus Intellectual disability, moderate Genu valgum High, narrow palate Delayed eruption of teeth Moderately short stature Large fontanelles Long hallux Delayed pubic bone ossification Spondylolysis Aplasia/Hypoplasia of the cerebellum Atrioventricular canal defect Increased intracranial pressure Cupped ear Decreased body weight Coarctation of aorta Broad nasal tip Hypodontia Hirsutism Laryngomalacia Pulmonic stenosis Glomerulonephritis Melanocytic nevus Feeding difficulties in infancy Abnormality of the metacarpal bones Proportionate short stature Behavioral abnormality Atrial septal defect Generalized hypotonia Turricephaly Short uvula Choanal stenosis Membranous nephropathy Bicoronal synostosis Brachyturricephaly Abnormal sacrum morphology Craniofacial dysostosis Long palpebral fissure Natal tooth Large foramen magnum Renal insufficiency Short middle phalanx of the 2nd finger Absent paranasal sinuses Sparse lateral eyebrow Inflammatory abnormality of the eye Wide pubic symphysis Persistent open anterior fontanelle Long second metacarpal Generalized joint laxity Abnormal facility in opposing the shoulders Feeding difficulties Optic atrophy Respiratory insufficiency Posteriorly rotated ears Abnormal palate morphology Brachycephaly Short 5th finger Dry skin Hypopigmentation of the skin Hypoplasia of the maxilla Nevus Short columella Migraine Neonatal hypoglycemia Central hypotonia Convex nasal ridge Epidermal acanthosis Choanal atresia Arnold-Chiari malformation Large central visual field defect Clonus Narrow naris Fusion of the left and right thalami Flat nasal alae Sensorineural hearing impairment Hernia Micropenis Umbilical hernia Camptodactyly Wide mouth Short distal phalanx of finger Overgrowth Oligodontia Generalized osteosclerosis Triangular mouth Hypoplasia of the premaxilla Mesomelic short stature Narrow nasal tip Otitis media with effusion Nystagmus Myopia Visual loss Photophobia Postnatal growth retardation Coloboma Nyctalopia Platyspondyly Astigmatism Absent nasal septal cartilage Alobar holoprosencephaly Waddling gait Prominent nose Syndactyly Autism Single transverse palmar crease Low anterior hairline Abnormality of the outer ear Hallux valgus Anterior plagiocephaly Macrotia Broad forehead Smooth philtrum Oral cleft Iris coloboma Hypotelorism Semilobar holoprosencephaly Omphalocele Holoprosencephaly Flat occiput Median cleft lip Bilateral cleft lip Bilateral cleft lip and palate Broad face Panhypopituitarism Bilateral microphthalmos Median cleft lip and palate Single median maxillary incisor Midline defect of the nose Retinal dystrophy Progressive visual loss Abnormality of the metaphysis Hypoplastic right heart Ventricular septal defect Short neck Patent ductus arteriosus Telecanthus Downturned corners of mouth Webbed neck Blue sclerae Patent foramen ovale Tricuspid regurgitation Agenesis of permanent teeth Anteriorly placed anus Pulmonary artery atresia Muscular hypotonia Hypoplastic inferior ilia Hyperreflexia Dysarthria Intrauterine growth retardation Ventriculomegaly Obesity Hyperhidrosis Apnea Neurological speech impairment Joint hyperflexibility Micromelia Sudden cardiac death Lumbar hyperlordosis Low-set ears Tibial torsion Cone/cone-rod dystrophy Retinal atrophy Metaphyseal widening Metaphyseal irregularity Bowing of the legs Abnormality of color vision Femoral bowing Tibial bowing Short finger High hypermetropia Macular atrophy Thoracic scoliosis Iris hypopigmentation Peripheral visual field loss Beaking of vertebral bodies Cupped ribs Ovoid vertebral bodies Ectopia pupillae Optic nerve coloboma Enlarged joints Spondylometaphyseal dysplasia Metaphyseal cupping Cone dysfunction syndrome Limited elbow movement Abnormality of macular pigmentation Decreased hip abduction Narrow greater sacrosciatic notches Retinal thinning Severe platyspondyly Bipolar affective disorder



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