Depressed nasal bridge, and Dental crowding

Diseases related with Depressed nasal bridge and Dental crowding

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

Top matches:

Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME DUE TO SETD5 HAPLOINSUFFICIENCY

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

High match FRASER SYNDROME

Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.

FRASER SYNDROME Is also known as cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Cryptorchidism
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about FRASER SYNDROME

Other less relevant matches:

Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features. Additional variable skeletal abnormalities may also be present (summary by Nesbitt et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LAMB-SHAFFER SYNDROME; LAMSHF

High 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

High 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

Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.

VAN DEN ENDE-GUPTA SYNDROME Is also known as marden-walker-like syndrome|vdegs|blepharophimosis, arachnodactyly, and congenital contractures|marden-walker-like syndrome without psychomotor retardation

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about VAN DEN ENDE-GUPTA SYNDROME

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.

SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME Is also known as soft syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME

Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16 Is also known as hbhr|atr syndrome, deletion type|alpha thalassemia-mental retardation syndrome|mental retardation with hemoglobin h|alpha thalassemia-intellectual disability syndrome, deletion type|alpha-thalassemia/mental retardation syndrome, deletion-type|atr, deletio

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16

High match MULIBREY NANISM

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Dental crowding

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Wide nasal bridge Common - Between 50% and 80% cases
High palate Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Depressed nasal bridge and Dental crowding. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Frontal bossing Anteverted nares Abnormality of the skeletal system Microcephaly Global developmental delay High forehead Short stature Severe short stature Midface retrusion Seizures Muscular hypotonia Downslanted palpebral fissures Brachydactyly Conductive hearing impairment Generalized hypotonia Macrocephaly Low-set ears Long philtrum Cryptorchidism Strabismus Micrognathia Short nose Malar flattening Clinodactyly Dental malocclusion Acanthosis nigricans Broad forehead Long hallux Pointed chin Retrognathia Growth delay Scoliosis Abnormality of the dentition Hyperlordosis Hypospadias Thin upper lip vermilion Failure to thrive Triangular face

Rare Symptoms - Less than 30% cases

Posteriorly rotated ears Mandibular prognathia Hydrocephalus Respiratory distress Lumbar hyperlordosis Pectus carinatum Finger syndactyly Craniosynostosis Ptosis Slender long bone Tracheal stenosis Myelomeningocele Atresia of the external auditory canal Ambiguous genitalia Diabetes mellitus Underdeveloped nasal alae Epicanthus Hypoplasia of the maxilla Talipes equinovarus Ventriculomegaly High pitched voice Type II diabetes mellitus Obesity Neoplasm Dolichocephaly Neurological speech impairment Intellectual disability, moderate Intrauterine growth retardation Flexion contracture Microtia Small for gestational age Bowing of the long bones Disproportionate short stature Choanal stenosis Epidermal acanthosis Convex nasal ridge Toe syndactyly Dysarthria Low-set, posteriorly rotated ears Kyphosis Hernia Micropenis Proptosis Mesomelia Umbilical hernia Chronic otitis media Gingival overgrowth Hearing impairment Delayed speech and language development Camptodactyly Wide mouth Myopia Short distal phalanx of finger Otitis media Broad thumb Overgrowth Limb undergrowth Astigmatism Downturned corners of mouth Narrow nasal bridge Relative macrocephaly Widely spaced teeth Azoospermia Small nail Upslanted palpebral fissure Waddling gait Nail dysplasia Cone-shaped epiphysis Prominent nose Short metacarpal Broad nasal tip Small hand Long face Short metatarsal Dandy-Walker malformation Joint contracture of the hand Brachycephaly Short femoral neck Agenesis of permanent teeth Short finger Asthma Low hanging columella Oligospermia Hypoplastic pelvis Everted lower lip vermilion High, narrow palate Arachnodactyly Breast hypoplasia Blepharophimosis Carious teeth Cardiac arrest Smooth philtrum Long metacarpals Thin ribs Dislocated radial head Narrow nose Abnormal eyebrow morphology Sclerocornea Single umbilical artery Hypoplastic scapulae Eclabion Lateral clavicle hook Ulnar bowing Camptodactyly of toe Narrow foot Distal ulnar hypoplasia Glenoid fossa hypoplasia Slender metacarpals Elbow flexion contracture Synophrys Severe global developmental delay Knee flexion contracture Autism Laryngomalacia Congenital contracture Stridor Sparse hair Prominent forehead Hallux valgus Developmental regression Femoral bowing Deeply set eye Osteopenia Poor speech Postnatal growth retardation Frontal balding Clitoral hypoplasia Hypodontia Pigmentary retinopathy Cyanosis Growth hormone deficiency Decreased antibody level in blood Nevus Abdominal distention Ascites Cirrhosis Increased body weight Infertility Delayed puberty Retinopathy Abnormality of the nervous system Hepatosplenomegaly Hypogonadism Depressivity Insulin resistance Reduced tendon reflexes Edema Prominent superficial veins Constrictive pericarditis Hypoplastic frontal sinuses J-shaped sella turcica Absent frontal sinuses Peripheral edema Fibroma Weak voice Myocardial fibrosis Cachexia Microglossia Scaphocephaly Insulin-resistant diabetes mellitus Pericarditis Pulmonary fibrosis Nephroblastoma Premature ovarian insufficiency Congestive heart failure Cardiomyopathy Hydronephrosis Talipes Polycystic kidney dysplasia Spina bifida Short toe Abnormality of the genital system Webbed neck Macroglossia Bruising susceptibility Congenital cataract Supernumerary nipple Abnormality of the kidney Patent ductus arteriosus Short neck Fatigue Anemia Cataract Hypoplastic sacrum Radial deviation of finger Aplasia/Hypoplasia of the eyebrow Hypoplasia of the corpus callosum Flat forehead Hepatomegaly Motor delay Feeding difficulties Neurocytoma Triangular nasal tip Hemoglobin H Reduced alpha/beta synthesis ratio Hypochromic anemia Microcytic anemia Asymmetry of the thorax Hypochromic microcytic anemia Aplasia/Hypoplasia of the earlobes Brain neoplasm Osteosarcoma Protruding tongue Underdeveloped supraorbital ridges Protruding ear Obsessive-compulsive behavior Macrotia Thickened calvaria Renal agenesis Bulbous nose Facial asymmetry Anxiety Pes planus Kyphoscoliosis Constipation Open mouth Behavioral abnormality Optic atrophy Depressed nasal tip Generalized osteosclerosis Narrow naris Malformed lacrimal duct Midline nasal groove Oligodontia Mitral regurgitation Wide pubic symphysis Maternal diabetes Ureteral stenosis Expressive language delay Thoracic kyphoscoliosis Vertebral clefting Hyperplasia of the maxilla Small face Long fingers Clumsiness Disproportionate tall stature Overlapping toe Optic nerve hypoplasia Narrow palate Increased bone mineral density Exotropia Stereotypy Lacrimal duct aplasia Cleft ala nasi Hypoplastic helices Hypoplasia of penis Narrow nasal tip Scrotal hypoplasia Multicystic kidney dysplasia Encephalocele Omphalocele Renal hypoplasia Otitis media with effusion Vertebral segmentation defect Wide intermamillary distance Blindness Pulmonary hypoplasia Oral cleft Cleft upper lip Anal atresia Microphthalmia Anophthalmia Anal stenosis Cryptophthalmos Vaginal atresia Urethral atresia Female pseudohermaphroditism Abnormality of the middle ear Laryngeal stenosis Subglottic stenosis Abnormal vagina morphology Bicornuate uterus External ear malformation Abnormal hair pattern Bifid tongue Ectopic anus Calvarial skull defect Triangular mouth Mesomelic short stature Abnormal lung lobation Mild myopia Laryngotracheomalacia Narrow mouth Disproportionate short-limb short stature Limited elbow extension Flared metaphysis Elbow dislocation Abnormality of pelvic girdle bone morphology Genu varum Short long bone Wormian bones Spinal canal stenosis Clonus Rhizomelia Impaired mastication Abnormal form of the vertebral bodies Abnormality of the metaphysis Abnormality of the ribs Sudden cardiac death Slender finger Obstructive sleep apnea Micromelia Acromelia Pectus excavatum Intellectual disability, severe Low anterior hairline Drooling Cleft palate Abnormality of cardiovascular system morphology Abnormality of the ilium Abnormality of the elbow Childhood onset short-limb short stature Narrow sacroiliac notch Aplasia/hypoplasia of the extremities Long thorax Neonatal short-limb short stature Diaphyseal thickening Large forehead Short palm Joint hyperflexibility Severe expressive language delay Preaxial polydactyly Cleft lip Coronal craniosynostosis Shallow orbits Ankylosis Natal tooth Broad hallux Arnold-Chiari malformation Oxycephaly Short thumb Choanal atresia Wide nose Polydactyly Dilatation Syndactyly Short phalanx of finger Cloverleaf skull Anterior plagiocephaly Narrow chest Cartilaginous trachea Joint stiffness Apnea Hyperhidrosis Sensorineural hearing impairment Skeletal dysplasia Hyperreflexia Short middle phalanx of toe Humeroradial synostosis Bicoronal synostosis Shortening of all middle phalanges of the fingers Broad phalanx Elbow ankylosis Brachyturricephaly Craniofacial dysostosis Bronchomalacia Pericardial constriction


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