Depressed nasal bridge, and Convex nasal ridge
Diseases related with Depressed nasal bridge and Convex nasal ridge
In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Convex nasal ridge that can help you solving undiagnosed cases.
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Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002).Patients with autosomal recessive cutis laxa type IC exhibit generalized cutis laxa in association with impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development (summary by Callewaert et al., 2013).For general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).
CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES Is also known as urban-rifkin-davis syndrome|arcl1c|autosomal recessive cutis laxa type 1c|urds|cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
Related symptoms:
- Generalized hypotonia
- Growth delay
- Hypertelorism
- Micrognathia
- Depressed nasal bridge
SOURCES:
MESH
OMIM
ORPHANET
MENDELIAN
More info about CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES
Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by craniosynostosis (see this term), midface hypoplasia, and finger and toe anomalies and/or syndactyly.
APERT SYNDROME Is also known as acrocephalosyndactyly type 1|acrocephalosyndactyly, type i|acs i|acs1
Related symptoms:
- Intellectual disability
- Hypertelorism
- Strabismus
- Sensorineural hearing impairment
- Cleft palate
SOURCES:
ORPHANET
MENDELIAN
More info about APERT SYNDROME
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Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by Hoyer et al., 2009).For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).
Related symptoms:
- Generalized hypotonia
- Microcephaly
- Hypertelorism
- Micrognathia
- Abnormal facial shape
SOURCES:
OMIM
MENDELIAN
More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B
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
Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.
SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
ORPHANET
MESH
OMIM
MENDELIAN
More info about SANJAD-SAKATI SYNDROME
Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.
CENANI-LENZ SYNDROME Is also known as cenani-lenz syndactyly|cenani syndactyly|syndactyly type 7|syndactyly, type vii|cenani syndactylism
Related symptoms:
- Hearing impairment
- Scoliosis
- Hypertelorism
- Nystagmus
- Micrognathia
SOURCES:
ORPHANET
OMIM
MESH
MENDELIAN
More info about CENANI-LENZ SYNDROME
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
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.
5Q14.3 MICRODELETION SYNDROME Is also known as monosomy 5q14.3|del(5)(q14.3)|mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about 5Q14.3 MICRODELETION SYNDROME
Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.
PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria
Related symptoms:
- Intellectual disability
- Global developmental delay
- Hearing impairment
- Hypertelorism
- Micrognathia
SOURCES:
ORPHANET
MESH
OMIM
MENDELIAN
More info about PROLIDASE DEFICIENCY
Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Convex nasal ridge
Symptoms // Phenotype |
% cases |
Hypertelorism |
Very Common - Between 80% and 100% cases
|
Intellectual disability |
Common - Between 50% and 80% cases
|
Abnormal facial shape |
Common - Between 50% and 80% cases
|
Downslanted palpebral fissures |
Common - Between 50% and 80% cases
|
Proptosis |
Common - Between 50% and 80% cases
|
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Other less frequent symptoms
Patients with Depressed nasal bridge and Convex nasal ridge. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Micrognathia
Uncommon Symptoms - Between 30% and 50% cases
Low-set ears
Malar flattening
Generalized hypotonia
Prominent forehead
High forehead
Toe syndactyly
Hypoplasia of the maxilla
Microcephaly
Short nose
Global developmental delay
Midface retrusion
Dilatation
High palate
Hearing impairment
Frontal bossing
Cleft palate
Strabismus
Growth delay
Arachnodactyly
Long philtrum
Macrotia
Broad forehead
Craniosynostosis
Ptosis
Laryngomalacia
Hydrocephalus
Syndactyly
Deeply set eye
Protruding ear
Ventriculomegaly
Finger syndactyly
Mandibular prognathia
Intellectual disability, severe
Rare Symptoms - Less than 30% cases
Flexion contracture
Choanal atresia
Conductive hearing impairment
Broad thumb
Micromelia
Brachyturricephaly
Cloverleaf skull
Arnold-Chiari malformation
Narrow palate
Bifid uvula
Dental crowding
Pectus excavatum
Recurrent respiratory infections
Delayed speech and language development
Asthma
Everted lower lip vermilion
Muscular hypotonia
Systemic lupus erythematosus
High, narrow palate
Short philtrum
Abnormality of dental enamel
Hypoplasia of the corpus callosum
Scoliosis
Failure to thrive
Short stature
Seizures
Long hallux
Choanal stenosis
Short thumb
Bronchomalacia
Abnormality of the dentition
Brachydactyly
Visual impairment
Short foot
Inguinal hernia
Emphysema
Congenital diaphragmatic hernia
Abnormality of the skeletal system
Shallow orbits
Large fontanelles
Hernia
Abnormality of the pinna
Cutis laxa
Respiratory distress
Genu valgum
Epidermal acanthosis
Joint laxity
Anterior plagiocephaly
Acanthosis nigricans
Craniofacial dysostosis
Broad hallux
Retrognathia
Hydronephrosis
Slender metacarpals
Feeding difficulties
Glenoid fossa hypoplasia
Distal ulnar hypoplasia
Narrow foot
Long metacarpals
Camptodactyly of toe
Anteverted nares
Ulnar bowing
Motor delay
Rectal prolapse
Absent speech
Generalized tonic-clonic seizures
Epileptic encephalopathy
Febrile seizures
Generalized myoclonic seizures
Downturned corners of mouth
Iris coloboma
Inability to walk
Thick eyebrow
Attention deficit hyperactivity disorder
Encephalopathy
Coloboma
Autistic behavior
EEG abnormality
Autism
Eclabion
Hyperactivity
Upslanted palpebral fissure
Myoclonus
Lateral clavicle hook
Thin ribs
Hypoplastic scapulae
Bilateral renal hypoplasia
Blepharophimosis
Camptodactyly
Narrow mouth
Talipes equinovarus
Synostosis of joints
Crossed fused renal ectopia
Foot oligodactyly
Headache
Absent fingernail
Absent toenail
Synostosis of carpal bones
Oligodactyly
Congenital hypothyroidism
Abnormality of digit
Absent thumb
Triangular face
Underdeveloped nasal alae
Single umbilical artery
Hallux valgus
Sclerocornea
Abnormal eyebrow morphology
Narrow nose
Dislocated radial head
Slender long bone
Narrow nasal bridge
Femoral bowing
Stridor
Dandy-Walker malformation
Congenital contracture
Knee flexion contracture
Elbow flexion contracture
Cardiac arrest
Joint contracture of the hand
Bowing of the long bones
Ambiguous genitalia
Open mouth
Absence seizures
Broad-based gait
Abnormality of retinal pigmentation
Generalized hirsutism
Recurrent pneumonia
Bilateral single transverse palmar creases
Low anterior hairline
Skin ulcer
Lymphedema
Abnormal lung morphology
Reduced bone mineral density
Thin skin
Inflammatory abnormality of the skin
Depressed nasal ridge
Cutaneous photosensitivity
Low posterior hairline
Hepatitis
Dehydration
Abnormality of the fingernails
Psoriasiform dermatitis
Hirsutism
Chronic lung disease
Diffuse telangiectasia
Crusting erythematous dermatitis
Facial hirsutism
Poliosis
Abnormality of the middle ear
White forelock
Concave nasal ridge
Hypoplasia of the zygomatic bone
Osteomyelitis
Prolonged neonatal jaundice
Abnormality of the immune system
Aplasia/Hypoplasia of the skin
Abnormality of the hip bone
Elevated erythrocyte sedimentation rate
Petechiae
Increased antibody level in blood
Palmoplantar keratoderma
Dry skin
Heterotopia
Poor eye contact
Happy demeanor
Abnormality of nervous system morphology
Abnormal corpus callosum morphology
Periventricular leukomalacia
Agenesis of cerebellar vermis
Large earlobe
Abnormality of the periventricular white matter
Infantile spasms
Frontal cortical atrophy
Cupped ear
Tented upper lip vermilion
Optic nerve hypoplasia
Plagiocephaly
Hypoplasia of the ulna
Short chin
Stereotypy
Hemiclonic seizures
Periventricular white matter hyperdensities
Carious teeth
Obesity
Pruritus
Papule
Skin rash
Erythema
Elevated hepatic transaminase
Hepatosplenomegaly
Hyperkeratosis
Thrombocytopenia
Anemia
Abnormality of metabolism/homeostasis
Recurrent infections
Splenomegaly
Intellectual disability, mild
Diarrhea
Vomiting
Hepatomegaly
Mixed hearing impairment
Renal hypoplasia/aplasia
Ectropion
Aortic root aneurysm
Biventricular hypertrophy
Narrow naris
Pulmonary insufficiency
Arterial stenosis
Abnormality of the vasculature
Soft skin
Aortic aneurysm
Intussusception
Narrow palpebral fissure
Joint dislocation
Spina bifida
Bradycardia
Oligohydramnios
Overgrowth
Recurrent fractures
Arterial tortuosity
Multiple joint dislocation
Joint hypermobility
Otitis media
Ankylosis
Natal tooth
Preaxial polydactyly
Atresia of the external auditory canal
Broad metatarsal
Hallux varus
Wide nose
Prominence of the premaxilla
Calcaneonavicular fusion
Polydactyly
Wide nasal bridge
Respiratory failure
Pulmonary artery dilatation
Generalized arterial tortuosity
Pulmonary artery aneurysm
Bulbous nose
Gastroesophageal reflux
Tracheal stenosis
Agenesis of corpus callosum
Patent foramen ovale
Facial asymmetry
Prematurely aged appearance
Tracheomalacia
Feeding difficulties in infancy
Pulmonary artery stenosis
Abnormality of cardiovascular system morphology
Delayed eruption of teeth
Respiratory insufficiency
Premature skin wrinkling
Peripheral pulmonary artery stenosis
Optic atrophy
Hypertension
Bladder diverticulum
Sensorineural hearing impairment
Flat face
Pyloric stenosis
Scarring
Recurrent urinary tract infections
Umbilical hernia
Sparse hair
Pulmonary hypoplasia
Sloping forehead
Acrobrachycephaly
Cervical C5/C6 vertebrae fusion
Morphological abnormality of the semicircular canal
Ectopic anus
Sandal gap
Corneal erosion
Esophageal atresia
Aplasia/Hypoplasia of the thumb
Ovarian neoplasm
Absent septum pellucidum
Vertebral segmentation defect
Microretrognathia
Coronal craniosynostosis
Oxycephaly
Elbow dislocation
Hypocalcemic seizures
2-3 toe syndactyly
Hypothyroidism
Cataract
Nystagmus
Patchy osteosclerosis
Congenital hypoparathyroidism
Cellular immunodeficiency
Prominent nasal bridge
Aplasia/Hypoplasia affecting the eye
Tetany
Decreased circulating cortisol level
Hyperphosphatemia
Hypoparathyroidism
Severe intrauterine growth retardation
External ear malformation
Short metatarsal
Hip dislocation
Intestinal obstruction
Hemivertebrae
Radioulnar synostosis
Deep philtrum
Hypoplasia of the radius
Abnormality of the metacarpal bones
Periorbital edema
Abnormal dermatoglyphics
Congenital hip dislocation
Congenital cataract
Abnormality of the genital system
Abnormal form of the vertebral bodies
Renal hypoplasia
Abnormality of the ribs
Renal agenesis
Hypodontia
Abnormal palate morphology
Spinal canal stenosis
Recurrent bacterial infections
Humeroradial synostosis
Broad hallux phalanx
Microphthalmia
Myopathy
Turricephaly
Intrauterine growth retardation
Cryptorchidism
Preaxial foot polydactyly
Symphalangism affecting the phalanges of the hand
Split foot
Abnormality of fibula morphology
Cartilaginous trachea
Short middle phalanx of toe
Bicoronal synostosis
Shortening of all middle phalanges of the fingers
Broad phalanx
Elbow ankylosis
Delayed skeletal maturation
Severe short stature
Hypocalcemia
Astigmatism
Hypoplasia of penis
Growth hormone deficiency
Delayed myelination
Underdeveloped supraorbital ridges
Small hand
Short palm
Thin vermilion border
Small for gestational age
Posteriorly rotated ears
Corneal opacity
Postnatal growth retardation
Low-set, posteriorly rotated ears
Muscular hypotonia of the trunk
Thin upper lip vermilion
Micropenis
Hypogonadism
Recurrent cystitis
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