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.


Top matches:

High match JACKSON-WEISS SYNDROME; JWS


JACKSON-WEISS SYNDROME; JWS Is also known as craniosynostosis, midfacial hypoplasia, and foot abnormalities

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about JACKSON-WEISS SYNDROME; JWS

High match CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES


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

High match APERT SYNDROME


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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B


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

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 SANJAD-SAKATI 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

High match CENANI-LENZ 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

High match VAN DEN ENDE-GUPTA 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

High match 5Q14.3 MICRODELETION 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

High match PROLIDASE DEFICIENCY


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
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Optic atrophy and Diarrhea, related diseases and genetic alterations Fever and Spastic tetraplegia, related diseases and genetic alterations Wide nasal bridge and Hyperinsulinemia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more