Depressed nasal bridge, and Arachnodactyly

Diseases related with Depressed nasal bridge and Arachnodactyly

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


Top matches:

High match STICKLER SYNDROME TYPE 3


Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.

STICKLER SYNDROME TYPE 3 Is also known as stickler syndrome, vitreous type 2|stickler syndrome, beaded vitreous type|stickler syndrome, non-ocular type

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 3

High match COFFIN-SIRIS SYNDROME 5; CSS5


Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by Wieczorek et al., 2013). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 5; CSS5

High match ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2


The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS, including midface hypoplasia, choanal stenosis or atresia, and multiple joint contractures. Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by McGlaughlin et al., 2010).

ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2 Is also known as multisynostotic osteodysgenesis with long bone fractures|osteodysgenesis, multisynostotic, with fractures|trapezoidocephaly-synostosis syndrome

Related symptoms:

  • Intellectual disability
  • Flexion contracture
  • Depressed nasal bridge
  • Frontal bossing
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2

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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 ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1


The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS; other features include midface hypoplasia, choanal stenosis or atresia, multiple joint contractures, visceral anomalies (particularly of the genitourinary system), and impaired steroidogenesis (present only in patients with POR mutations). Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by McGlaughlin et al., 2010).

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1

High match ALG3-CDG


ALG3-CDG is a form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC, see this term), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). ALG3-CDG is caused by loss of function mutations of the gene ALG3 (3q27.3).

ALG3-CDG Is also known as cdgid|cdg id|cdgs, type iv, formerly|cdgs4, formerly|carbohydrate-deficient glycoprotein syndrome, type iv, formerly|congenital disorder of glycosylation type id|congenital disorder of glycosylation type 1d|cdg syndrome type id|cdg-id|mannosyltransferase

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALG3-CDG

High match 17Q23.1Q23.2 MICRODELETION SYNDROME


17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.

17Q23.1Q23.2 MICRODELETION SYNDROME Is also known as 17q23.1-q23.2 microdeletion syndrome|del(17)(q23.1q23.2)|monosomy 17q23.1q23.2|monosomy 17q23.1-q23.2

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q23.1Q23.2 MICRODELETION 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 BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME


ZTTK syndrome is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by Kim et al., 2016).

BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME Is also known as zttk multiple congenital anomalies-mental retardation syndrome|zhu-tokita-takenouchi-kim syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME

High match COHEN-GIBSON SYNDROME; COGIS


Cohen-Gibson syndrome is an overgrowth disorder characterized by increased somatic parameters apparent from birth and associated with variable intellectual disability. Affected individuals have dysmorphic facial features, advanced bone age, and skeletal abnormalities, including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, and often scoliosis or cervical spine anomalies. Other features may include hypotonia, difficulty walking due to skeletal anomalies, and umbilical hernia (summary by Cooney et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COHEN-GIBSON SYNDROME; COGIS

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Arachnodactyly

Symptoms // Phenotype % cases
Abnormal facial shape Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
Microcephaly 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 Depressed nasal bridge and Arachnodactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Hypertelorism Malar flattening Scoliosis High palate Hypoplasia of the corpus callosum Epicanthus Frontal bossing Long fingers Camptodactyly Seizures Atrial septal defect Abnormality of the pinna Craniosynostosis Failure to thrive Pectus excavatum Long philtrum Bulbous nose Slender finger Cleft palate Muscular hypotonia Joint laxity Wide nasal bridge Feeding difficulties Joint contracture of the hand Small nail Strabismus Macrotia Short stature Protruding ear Femoral bowing Choanal stenosis Ulnar bowing Midface retrusion Respiratory distress Joint hypermobility Bifid uvula Narrow mouth Proptosis Low-set ears Downslanted palpebral fissures Talipes equinovarus

Rare Symptoms - Less than 30% cases


Prominent forehead Hernia Humeroradial synostosis Convex nasal ridge Overgrowth Oligohydramnios Hearing impairment Soft skin Growth delay Exotropia Deeply set eye Macrocephaly Narrow foot Abnormality of the skeletal system Congenital contracture Esotropia Postnatal growth retardation Patent ductus arteriosus Delayed speech and language development Cerebral visual impairment Cryptorchidism Cerebellar atrophy Optic atrophy Rocker bottom foot Micrognathia Visual impairment Laryngomalacia Hemivertebrae Horseshoe kidney Ambiguous genitalia Small for gestational age Multiple joint contractures Hyperreflexia Radioulnar synostosis Dandy-Walker malformation Sandal gap Long eyelashes Ptosis Intrauterine growth retardation Absent speech Brachycephaly Cerebellar hypoplasia Anteverted nares Thin upper lip vermilion Cataract Thick eyebrow Myopia Retinopathy Choanal atresia Short philtrum Narrow nasal bridge Slender long bone Ventricular septal defect Thin ribs Dislocated radial head Narrow nose Abnormal eyebrow morphology Sclerocornea Slender metacarpals Single umbilical artery Long metacarpals Hypoplastic scapulae Eclabion Stridor Lateral clavicle hook Long hallux Camptodactyly of toe Nystagmus Distal ulnar hypoplasia Glenoid fossa hypoplasia Hallux valgus Cardiac arrest Knee flexion contracture Retinopathy of prematurity Abnormality of epiphysis morphology Bilateral single transverse palmar creases Widely spaced teeth Sacral dimple Bicuspid aortic valve Chronic otitis media Shawl scrotum Blepharitis Mild global developmental delay Bifid nose Patellar hypoplasia Moderate global developmental delay Long toe Shallow acetabular fossae Coxa magna Elbow flexion contracture Hypoplasia of the maxilla Abnormality of the dentition Dental crowding Bowing of the long bones Underdeveloped nasal alae Asthma Triangular face Everted lower lip vermilion Chalazion High, narrow palate Blepharophimosis Hydronephrosis Intellectual disability, severe Glaucoma Arthralgia Ventriculomegaly Autism Kyphosis Melanocytic nevus Broad forehead Poor speech Astigmatism Nevus Round face Wide intermamillary distance Mitral regurgitation Broad thumb Tall stature Coxa valga Accelerated skeletal maturation Hemangioma Metaphyseal widening Large hands Difficulty walking Tracheomalacia Enlarged kidney Poor coordination Broad neck Patellar dislocation Spinal cord compression Capillary hemangioma Hypoplastic iliac wing Long foot Broad face Thin nail Long ear Hyperopic astigmatism Hamstring contractures Prominent nasal bridge Jaundice Short nose Abnormality of the ribs Abnormality of cardiovascular system morphology Visual loss Pectus carinatum Developmental regression Autistic behavior Abnormality of the cerebral white matter Hypermetropia Facial asymmetry Smooth philtrum Thin vermilion border Small hand Short foot Full cheeks Narrow forehead Sensorineural hearing impairment Umbilical hernia Severe muscular hypotonia Infantile muscular hypotonia Relative macrocephaly Sparse eyebrow Unilateral renal agenesis Abnormality of coagulation Curly hair Arachnoid cyst Periventricular leukomalacia Intestinal atresia Gait disturbance Depressivity Osteopenia Retrognathia Pulmonary arterial hypertension Pes planus Limitation of joint mobility Arterial tortuosity Bradycardia Spina bifida Joint dislocation Narrow palpebral fissure Cutis laxa Aortic aneurysm Emphysema Aortic root aneurysm Abnormality of the vasculature Arterial stenosis Pulmonary insufficiency Narrow naris Biventricular hypertrophy Intussusception Low anterior hairline Multiple joint dislocation Prominence of the premaxilla Pulmonary artery aneurysm Generalized arterial tortuosity Pulmonary artery dilatation Sparse scalp hair Thick lower lip vermilion Abnormality of metabolism/homeostasis Hypospadias Micropenis Conductive hearing impairment Wide nose Abnormality of the genital system Congenital diaphragmatic hernia Hypoplastic toenails Scrotal hypoplasia Narrow pelvis bone Malnutrition Wide anterior fontanel Esophageal atresia Coronal craniosynostosis Stenosis of the external auditory canal Hypoplastic labia majora Upper airway obstruction Vaginal atresia Abnormal renal morphology Lambdoidal craniosynostosis Progressive neurologic deterioration Narrow chest Narrow iliac wings Pear-shaped nose Recurrent fractures Bicoronal synostosis Fused labia minora Respiratory tract infection Apnea Respiratory failure Recurrent respiratory infections Dilatation Hydrocephalus Inguinal hernia Thick nasal alae Abnormal corpus callosum morphology Scarring Dystrophic toenail Short distal phalanx of finger Arnold-Chiari malformation Highly arched eyebrow Glossoptosis Nail dysplasia Hypsarrhythmia Exostoses Adducted thumb Abnormality of vision Hypoplastic nipples Severe vision loss Villous atrophy Decreased light- and dark-adapted electroretinogram amplitude Portal fibrosis Type I transferrin isoform profile Clinodactyly of the 5th toe Food intolerance Arthropathy Arthrogryposis multiplex congenita Hypertension Behavioral abnormality Intellectual disability, mild Spondyloepiphyseal dysplasia Clinodactyly of the 5th finger Osteoarthritis Dyspnea Gastroesophageal reflux Abnormality of the genitourinary system Aggressive behavior Mitral valve prolapse Retinal detachment Abnormal cardiac septum morphology Iris coloboma Severe global developmental delay Wide mouth Low maternal serum estriol Polycystic ovaries Clitoral hypertrophy Bifid scrotum Tarsal synostosis Carpal synostosis Abnormality of abdomen morphology Abnormality of the endocrine system Labial hypoplasia Cloverleaf skull Chordee Bronchomalacia Abnormalities of placenta or umbilical cord Vesicovaginal fistula Maternal virilization in pregnancy Coloboma Coarse facial features Abnormal heart morphology Recurrent infections Abnormal metacarpal morphology Blindness Vomiting Abnormal vitreous humor morphology Diarrhea Hypertonia Cerebral atrophy Clinodactyly Pierre-Robin sequence Muscular hypotonia of the trunk Abnormality of the eye Spinal instability



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