Depressed nasal bridge, and Joint hypermobility

Diseases related with Depressed nasal bridge and Joint hypermobility

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

Top matches:

Acromesomelic dysplasia, Maroteaux type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type (see these terms).

Related symptoms:

  • Scoliosis
  • Depressed nasal bridge
  • Brachydactyly
  • Frontal bossing
  • Kyphosis


SOURCES: ORPHANET MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE Is also known as bmrs, mkb type|bmrs, maat-kievit-brunner type|blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type|blepharophimosis-mental retardation syndrome, maat-kievit-brunner type|x-linked ohdo syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Micrognathia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE

NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM Is also known as isolated congenital gonadotropin deficiency|normosmic idiopathic hypogonadotropic hypogonadism|gonadotropic deficiency|nihh

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Depressed nasal bridge
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM

Other less relevant matches:

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

Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008).For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see {130060}.

EHLERS-DANLOS SYNDROME TYPE 7B Is also known as eds viib|ehlers-danlos syndrome, type viib, autosomal dominant|eds7b

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 7B

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE Is also known as semd, shohat type

Related symptoms:

  • Short stature
  • Scoliosis
  • Pain
  • Depressed nasal bridge
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE

Related symptoms:

  • Short stature
  • Depressed nasal bridge
  • Intrauterine growth retardation
  • Frontal bossing
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about DWARFISM WITH TALL VERTEBRAE

JABELS is an autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. Patients have onset of symptoms in infancy, but the severity is highly variable. Some patients have social interaction and learn to walk but have an ataxic gait and abnormal movements, such as tremor or dystonia, whereas others do not achieve any motor control and are unable to speak. Additional features may include retinal anomalies, visual impairment, microcephaly, abnormal foot or hand posturing, and kyphoscoliosis; some patients have dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum (summary by Jaberi et al., 2016 and Bertoli-Avella et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JABERI-ELAHI SYNDROME; JABELS

Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).

THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia with kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|td2|cloverleaf skull with thanatophoric dwarfism|thanatophor

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 2

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Joint hypermobility

Symptoms // Phenotype % cases
Joint hyperflexibility Uncommon - Between 30% and 50% cases
Hyperlordosis Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Kyphosis Long philtrum Global developmental delay Severe short stature Short thorax Micrognathia Short ribs Hearing impairment Intellectual disability

Rare Symptoms - Less than 30% cases

Talipes equinovarus Generalized hypotonia Cataract Myopia Seizures Pectus carinatum Arthralgia Pes planus Pectus excavatum Malar flattening Osteoarthritis Optic atrophy Joint laxity Hip dislocation Wormian bones Failure to thrive Muscular hypotonia Osteoporosis Macrocephaly Ventriculomegaly Hydrocephalus Short femur Flared metaphysis Metaphyseal irregularity Coxa vara Micromelia Platyspondyly Decreased testicular size Anteverted nares Delayed skeletal maturation Cleft palate Brachydactyly Joint stiffness Dolichocephaly Disproportionate short stature Cryptorchidism Thin vermilion border Triangular face Short neck Abnormality of the dentition Sparse eyebrow Narrow vertebral interpedicular distance Cloverleaf skull Small face Respiratory insufficiency Hypoplastic ilia Aplasia/Hypoplasia of the lungs Spondyloepimetaphyseal dysplasia Abnormality of the abdominal wall Vertebral hypoplasia Narrow greater sacrosciatic notches Short iliac bones Upper airway obstruction Fibular overgrowth Central vertebral hypoplasia Abnormal epiphyseal ossification Intrauterine growth retardation Abnormality of the skeletal system Hypospadias Occipital encephalocele Clinodactyly of the 5th finger Mandibular prognathia Small for gestational age Thick eyebrow Increased nuchal translucency Severe short-limb dwarfism Redundant skin Proptosis Hepatosplenomegaly Polyhydramnios Small abnormally formed scapulae Abdominal distention Round face Limb undergrowth Abnormality of the ribs Lumbar hyperlordosis Abnormality of epiphysis morphology Hoarse voice Patent ductus arteriosus Vertebral compression fractures Genu varum Metaphyseal widening Small foramen magnum Lethal short-limbed short stature Short femoral neck Thoracic hypoplasia Atrial septal defect Bell-shaped thorax Short sacroiliac notch Delayed epiphyseal ossification Flat acetabular roof Abnormality of neuronal migration Disproportionate short-limb short stature Brittle hair Distal muscle weakness Hand clenching Dystonia Short nose Absent speech Hyporeflexia Cerebellar hypoplasia Agenesis of corpus callosum Gait ataxia Kyphoscoliosis Protruding ear Talipes Narrow chest Dysmetria Inability to walk Dandy-Walker malformation Generalized-onset seizure Narrow forehead Fine hair Choreoathetosis Broad-based gait Abnormal autonomic nervous system physiology Sparse eyelashes Abnormality of the kidney Flat face Pointed chin Microcephaly Scapular winging Spina bifida occulta Holoprosencephaly Skeletal dysplasia Acanthosis nigricans Encephalocele Short 5th finger Hypoplastic pelvis Increased vertebral height Cognitive impairment Ataxia Cerebellar atrophy Abnormal facial shape Spasticity Abnormality of the metaphysis Low-set ears Delayed speech and language development Visual impairment Hyperreflexia Tremor Decreased fetal movement Hypoplasia of the corpus callosum Limitation of joint mobility Slender long bone Finger syndactyly Splenomegaly Generalized joint laxity Wide intermamillary distance Primary amenorrhea Gynecomastia Hypogonadotrophic hypogonadism Azoospermia Abnormality of the voice Congenital sensorineural hearing impairment Impotence Hypoplasia of the uterus Sparse body hair Secondary amenorrhea Male hypogonadism Camptodactyly Decreased serum testosterone level Absence of secondary sex characteristics Breast hypoplasia Decreased testosterone in males Eunuchoid habitus Female hypogonadism Hypoplasia of the ovary Non-obstructive azoospermia Absence of pubertal development Abnormality of body height Increased female libido Sensorineural hearing impairment Delayed puberty Anxiety Glaucoma Clinodactyly Prominent forehead Abnormal form of the vertebral bodies Bowing of the long bones Sprengel anomaly Beaking of vertebral bodies Ovoid vertebral bodies Vertebral wedging Acromesomelia Ptosis Feeding difficulties Wide nasal bridge Narrow mouth Osteopenia Coarse facial features Carcinoma Blepharophimosis Smooth philtrum Bulbous nose Prominent nose Decreased body weight Cafe-au-lait spot Scrotal hypoplasia Hypertelorism Depressivity Micropenis Midface retrusion Retinopathy Gait disturbance Hand polydactyly Neoplasm Abnormality of cardiovascular system morphology Arrhythmia High forehead Deeply set eye Wide mouth Toe syndactyly Facial asymmetry Polymicrogyria Full cheeks Arnold-Chiari malformation Aplasia/Hypoplasia of the cerebellum Excessive wrinkled skin Cutis marmorata Hypermelanotic macule Telangiectasia of the skin Foot polydactyly Nevus flammeus Arteriovenous malformation Cerebral ischemia Visceral angiomatosis Abnormality of nervous system morphology Asymmetric growth Pain Hepatomegaly Subcutaneous hemorrhage Poor wound healing Arachnodactyly Hernia Retinal detachment Bifid uvula Mitral valve prolapse Spondyloepiphyseal dysplasia Long fingers Arthropathy Glossoptosis Exostoses Pierre-Robin sequence Abnormal vitreous humor morphology Abnormal metacarpal morphology Muscle weakness Gastroesophageal reflux Hyperextensibility of the finger joints Umbilical hernia Bruising susceptibility Recurrent fractures Blue sclerae Congenital hip dislocation Joint dislocation Delayed gross motor development Hyperextensible skin Hallux valgus Atrophic scars Fragile skin Soft skin Wide-cupped costochondral junctions


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