Wide nasal bridge, and Arachnodactyly

Diseases related with Wide nasal bridge and Arachnodactyly

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


Top matches:

High match HAMEL CEREBRO-PALATO-CARDIAC SYNDROME


Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term).

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about HAMEL CEREBRO-PALATO-CARDIAC SYNDROME

High match OSTEOGENESIS IMPERFECTA, TYPE XVIII; OI18


Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life (Doyard et al., 2018).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XVIII; OI18

High match GORLIN SYNDROME


Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.

GORLIN SYNDROME Is also known as nbccs|basal cell nevus syndrome|nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Neoplasm
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about GORLIN SYNDROME

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Other less relevant matches:

High match 5P13 MICRODUPLICATION SYNDROME


5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).

5P13 MICRODUPLICATION SYNDROME Is also known as dup(5)(p13)|trisomy 5p13

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 5P13 MICRODUPLICATION SYNDROME

High match NEONATAL MARFAN SYNDROME


Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.

NEONATAL MARFAN SYNDROME Is also known as neonatal mfs

Related symptoms:

  • Micrognathia
  • Muscular hypotonia
  • Low-set ears
  • Flexion contracture
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about NEONATAL MARFAN SYNDROME

High match BAINBRIDGE-ROPERS SYNDROME; BRPS


Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by Srivastava et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about BAINBRIDGE-ROPERS SYNDROME; BRPS

High match ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT


Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by Chesler et al., 2016 and Delle Vedove et al., 2016).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT

High match EARLY-ONSET SEIZURES-DISTAL LIMB ANOMALIES-FACIAL DYSMORPHISM-GLOBAL DEVELOPMENTAL DELAY SYNDROME


IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by Santiago-Sim et al., 2017).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET SEIZURES-DISTAL LIMB ANOMALIES-FACIAL DYSMORPHISM-GLOBAL DEVELOPMENTAL DELAY SYNDROME

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 DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME


This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).

DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as cardiomyopathy, dilated, with premature ovarian failure|genital anomaly with cardiomyopathy|najjar syndrome|cardiomyopathy, congestive, with hypergonadotropic hypogonadism|cardiogenital syndrome|cardiomyopathy with primary testicular failure|malouf syndro

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cryptorchidism
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
High palate Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Wide nasal bridge and Arachnodactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture Seizures Motor delay Bulbous nose Low-set ears Feeding difficulties Strabismus Micrognathia Microcephaly Short stature Hypertelorism Brachycephaly Inability to walk Absent speech Hypoplasia of the corpus callosum Abnormal facial shape Broad forehead Muscular hypotonia Epicanthus Downslanted palpebral fissures Long fingers Cryptorchidism Talipes equinovarus Failure to thrive

Rare Symptoms - Less than 30% cases


Pes planus Abnormality of the pinna Retrognathia Prominent nasal bridge Severe global developmental delay Upslanted palpebral fissure Growth delay Macrotia Small for gestational age Tricuspid regurgitation Frontal bossing Adducted thumb Iris coloboma Highly arched eyebrow Mitral regurgitation Blue sclerae Long eyelashes Thin upper lip vermilion Joint hypermobility Abnormality of the skeletal system Disproportionate tall stature Long palpebral fissure Arthrogryposis multiplex congenita Long nose Delayed ability to walk Short chin Joint contracture of the hand Depressed nasal bridge Hyperreflexia Visual impairment Overlapping toe Flat occiput Optic atrophy Cerebellar atrophy Blindness Vomiting Sensory axonal neuropathy Diarrhea Impaired vibratory sensation Hypertonia Poor head control Sandal gap Cerebral atrophy Pectus excavatum Clinodactyly Sacral dimple Long philtrum Broad thumb Impaired tactile sensation Abnormal heart morphology Intellectual disability, severe Autism Muscular hypotonia of the trunk Short neck Ventriculomegaly Intrauterine growth retardation Hearing impairment Protruding ear Spastic tetraplegia Sensory ataxia Autistic behavior Abnormal cardiac septum morphology Impaired proprioception Distal arthrogryposis Long face Narrow nasal bridge Tapered finger Tetraplegia Myopathic facies Type I transferrin isoform profile Abnormality of the eye Short clavicles Telangiectasia Increased bone mineral density Hypergonadotropic hypogonadism Spontaneous abortion Ventricular tachycardia Polycystic ovaries Lipodystrophy Precocious puberty Bilateral ptosis Premature ovarian insufficiency Bilateral cryptorchidism Scleroderma Secondary amenorrhea Thoracic scoliosis Down-sloping shoulders Atrial fibrillation Poikiloderma Abnormality of the testis Sparse pubic hair Elevated circulating follicle stimulating hormone level Abnormality of the ovary Elevated circulating luteinizing hormone level Poor wound healing Wide nasal base Testicular dysgenesis Sclerodactyly Primary testicular failure Puberty and gonadal disorders Myofiber disarray Thyroid hemiagenesis Abnormality of the genital system Cardiomegaly Coloboma Ptosis Bifid uvula Nail dysplasia Hypsarrhythmia Small nail Cerebral visual impairment Abnormality of vision Hypoplastic nipples Severe vision loss Villous atrophy Decreased light- and dark-adapted electroretinogram amplitude Portal fibrosis Hip dysplasia Clinodactyly of the 5th toe Food intolerance Cardiomyopathy Amenorrhea Dilated cardiomyopathy Convex nasal ridge Abnormality of the skin Full cheeks Wide nose Tachycardia Delayed puberty Microtia Congestive heart failure Osteopenia Micropenis Hypogonadism Osteoporosis Arrhythmia Intellectual disability, mild Broad-based gait Tall stature Sensory neuropathy Agenesis of corpus callosum Cerebral calcification Hypogonadotrophic hypogonadism Hemivertebrae Melanocytic nevus Vertebral fusion Abnormality of the neck Abnormality of the sense of smell Vertebral wedging Palmar pits Plantar pits Macrocephaly Proptosis Telecanthus Craniosynostosis Sparse hair Blepharophimosis Short philtrum Astigmatism Sleep disturbance Narrow forehead Hypotelorism Low posterior hairline Short palpebral fissure Stereotypy Exotropia Carious teeth Mandibular prognathia Large hands Recurrent fractures Cleft palate Atrial septal defect Malar flattening Narrow mouth Cupped ear Delayed speech and language development Dysphagia Abnormality of the dentition Hernia Pneumonia Umbilical hernia Joint laxity Bowing of the long bones Glaucoma Wormian bones Femoral bowing Pathologic fracture Thin ribs Vertebral compression fractures Generalized osteoporosis Thin bony cortex Biconcave vertebral bodies Neoplasm Cataract Brachydactyly Hydrocephalus Obsessive-compulsive behavior Overweight Peripheral axonal neuropathy Ulnar deviation of the hand Short nose Prominent forehead Postnatal growth retardation Wide mouth Everted lower lip vermilion Broad nasal tip Open mouth Dental crowding Trigonocephaly Hypoplasia of the brainstem Severe postnatal growth retardation Ataxia Myopia Muscle weakness Cognitive impairment Peripheral neuropathy Dysarthria Respiratory insufficiency Areflexia Difficulty walking Camptodactyly Distal muscle weakness Abnormality of the foot Dysmetria Unsteady gait Anteverted nares Increased arm span Turricephaly Neonatal respiratory distress Long foot Hyporeflexia Deeply set eye Pectus carinatum Dolichocephaly High, narrow palate Decreased testicular size Mitral valve prolapse High myopia Cutis laxa Ectopia lentis Heart murmur Emphysema Crumpled ear Lipoatrophy Aortic root aneurysm Megalocornea Hypoxemia Abnormal echocardiogram Long toe Enlarged thorax Ascending tubular aorta aneurysm Tricuspid valve prolapse Iridodonesis Abnormal cardiac ventricle morphology Talipes calcaneovarus Aplasia of the phalanges of the 3rd toe



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