Depressed nasal bridge, and Spastic paraplegia

Diseases related with Depressed nasal bridge and Spastic paraplegia

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


Top matches:

High match PONTOCEREBELLAR HYPOPLASIA TYPE 7


Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.

PONTOCEREBELLAR HYPOPLASIA TYPE 7 Is also known as pontocerebellar hypoplasia-46,xy disorder of sex development syndrome|pch7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 7

High match MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1


The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.

MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 Is also known as smith-fineman-myers syndrome 1|chudley-lowry syndrome|holmes-gang syndrome|mental retardation, x-linked, with growth retardation, deafness, and microgenitalism|xlmr-hypotonic facies syndrome|carpenter-waziri syndrome|sfms|sfm1|jms|juberg-marsidi syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1

High match GM1 GANGLIOSIDOSIS TYPE 2


GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.

GM1 GANGLIOSIDOSIS TYPE 2 Is also known as late-infantile gm1 gangliosidosis|gangliosidosis, generalized gm1, type ii|juvenile gm1 gangliosidosis|gangliosidosis, generalized gm1, type 2|gangliosidosis, generalized gm1, juvenile type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about GM1 GANGLIOSIDOSIS TYPE 2

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Other less relevant matches:

High match SCHEIE SYNDROME


Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

SCHEIE SYNDROME Is also known as mps v, formerly|mucopolysaccharidosis type 1s|mps5, formerly|mps1-s|mps1s|mucopolysaccharidosis type v, formerly|mpsis|mucopolysaccharidosis type is

Related symptoms:

  • Sensorineural hearing impairment
  • Visual impairment
  • Depressed nasal bridge
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHEIE SYNDROME

High match ATELOSTEOGENESIS TYPE I


Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.

ATELOSTEOGENESIS TYPE I Is also known as mecp2 duplication syndrome|aoi|giant cell chondrodysplasia|mental retardation, x-linked, with recurrent respiratory infections|spondylo-humero-femoral dysplasia|atelosteogenesis type 1|mental retardation, x-linked, syndromic, lubs type|ao1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATELOSTEOGENESIS TYPE I

High match HURLER-SCHEIE SYNDROME


Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

HURLER-SCHEIE SYNDROME Is also known as mucopolysaccharidosis type 1h/s|mucopolysaccharidosis type ih/s|mpsih/s|mps1-hs|mps1h/s

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about HURLER-SCHEIE SYNDROME

High match HURLER SYNDROME


Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

High match ACHONDROPLASIA; ACH


Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Medium match SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47


Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Spastic paraplegia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares Abnormal facial shape Short stature Apnea Coarse facial features Microcephaly High palate Delayed speech and language development Micrognathia Hearing impairment Skeletal dysplasia Hypertelorism Sensorineural hearing impairment Obstructive sleep apnea Short neck Scoliosis Macrocephaly Genu valgum Hyperreflexia Wide nasal bridge Wide mouth Ventriculomegaly Absent speech Thick vermilion border Constipation Kyphosis Neurodegeneration Dolichocephaly Inability to walk Rigidity Hepatosplenomegaly Open mouth Hypertension Widely spaced teeth Motor delay Macroglossia Coxa valga Feeding difficulties Ataxia Facial hypotonia Protruding tongue Infantile muscular hypotonia Paraparesis Glaucoma Spastic paraparesis Hydrocephalus Cor pulmonale Communicating hydrocephalus Spinal canal stenosis Back pain Flexion contracture Abnormal form of the vertebral bodies Recurrent otitis media Lumbar hyperlordosis Sleep disturbance Conductive hearing impairment Recurrent respiratory infections Abnormality of the dentition Urinary glycosaminoglycan excretion Hepatomegaly Abnormal nerve conduction velocity Spinal cord compression Rhinitis Sleep apnea Limitation of joint mobility Kyphoscoliosis Retinal degeneration Corneal opacity Joint stiffness Myelopathy Pes cavus Splenomegaly Abnormality of the skeletal system Wide nose Dysostosis multiplex Gastroesophageal reflux Cryptorchidism Upslanted palpebral fissure Hypertonia Hypoplasia of the corpus callosum Epicanthus Growth delay Low-set ears Intellectual disability, severe Malar flattening Midface retrusion Optic atrophy Pneumonia

Rare Symptoms - Less than 30% cases


Thick eyebrow Heart murmur Abnormal heart valve morphology Thin upper lip vermilion Restrictive ventilatory defect Multiple joint contractures Toe walking Muscular hypotonia of the trunk Depressivity Cervical cord compression Chronic otitis media Macrotia Dystonia Recurrent ear infections Hypothyroidism Increased intracranial pressure Severe global developmental delay Opacification of the corneal stroma Arthropathy Chorea Abnormality of dental enamel Aortic regurgitation Sagittal craniosynostosis Flared iliac wings Prominent supraorbital ridges Everted lower lip vermilion Full cheeks Tracheal stenosis Aortic valve stenosis Cerebral palsy Mucopolysacchariduria Diastasis recti Stridor Delayed myelination Peripheral visual field loss Protuberant abdomen Constrictive median neuropathy Abnormality of peripheral nerve conduction Intellectual disability, profound Lower limb spasticity Upper airway obstruction Micropenis Abdominal pain Otitis media Proptosis Osteopenia Asthma Arthralgia Umbilical hernia Craniosynostosis Inguinal hernia Camptodactyly of finger Abnormal pyramidal sign Nyctalopia Pectus carinatum Pes planus Carious teeth Synophrys Severe short stature Hernia Cerebral atrophy Cardiomegaly Generalized hirsutism Elbow flexion contracture Abnormal vertebral morphology Thickened skin Hypogonadism Cervical myelopathy Abnormality of the ribs Microdontia Headache Progressive visual loss Cognitive impairment Respiratory insufficiency Cardiomyopathy Diarrhea Congestive heart failure Hip dysplasia Visual impairment Hirsutism Brachydactyly Prominent forehead Abnormality of the tonsils Heparan sulfate excretion in urine Hernia of the abdominal wall Tetraplegia Long philtrum Platyspondyly Short nose Developmental regression Abnormality of lysosomal metabolism Babinski sign J-shaped sella turcica Posteriorly rotated ears Gait disturbance Flared metaphysis Lumbar kyphosis Talipes equinovarus Pain Vomiting Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Clumsiness Spastic tetraplegia Hip subluxation Drooling Muscle weakness Abnormal diaphysis morphology Frontal bossing Narrow forehead Paraplegia Muscular hypotonia Increased size of nasopharyngeal adenoids Obesity Exotropia Abnormality of glycosaminoglycan metabolism Abnormality of the gingiva Tented upper lip vermilion Abnormality of the elbow Abnormality of the cardiovascular system Hemiplegia Left ventricular hypertrophy Encephalocele Chronic diarrhea Difficulty standing Recurrent upper respiratory tract infections Excessive salivation Interphalangeal joint contracture of finger Long eyelashes Genu recurvatum Mitral regurgitation Abnormality of epiphysis morphology Hyperammonemia Myocardial infarction Corneal dystrophy Progressive neurologic deterioration Progressive hearing impairment Decreased body weight Hypertrichosis Coxa vara Gingival overgrowth Split hand Sclerosis of skull base High, narrow palate Large face Abnormality of the skin Endocardial fibroelastosis Abnormality of the skull Seborrheic dermatitis Abnormality of the clavicle Gingivitis Abnormality of the respiratory system Abnormal mitral valve morphology Pulmonary edema Shallow orbits Beaking of vertebral bodies Foam cells Conical tooth Angina pectoris Anterior open bite Large earlobe Hypoplastic ilia Recurrent lower respiratory tract infections Abnormal aortic valve morphology Language impairment Diaphyseal thickening Metatarsus adductus Broad nasal tip Biconcave vertebral bodies Chronic rhinitis Retinal fold Coronary artery atherosclerosis Thickened calvaria Thoracic scoliosis Hypoplasia of teeth Short clavicles Delayed ossification of carpal bones Hypoplasia of the odontoid process Delayed eruption of teeth Broad femoral neck Abnormality of skin pigmentation Palpebral edema Rhinorrhea Acetabular dysplasia Abnormal CNS myelination Meckel diverticulum Neonatal short-limb short stature Tetraparesis Epidermal acanthosis Overgrowth Lymphoma Oral cleft Confusion Micromelia Joint hyperflexibility Leukemia Scarring Hyperlordosis Chronic myelogenous leukemia Cleft lip Abnormality of the metaphysis Abnormality of the nervous system Weight loss Anemia Central sleep apnea Obstructive lung disease Hypopnea Neoplasm Ganglioneuroblastoma Pontocerebellar atrophy Inverted nipples Impulsivity Laryngomalacia Hyperbilirubinemia Osteoarthritis Abnormal lung morphology Postnatal microcephaly Limited elbow extension Dysuria Generalized joint laxity Abnormality of femur morphology Osteopetrosis Megalencephaly Hip contracture Multiple epiphyseal dysplasia Neuroblastoma Hypoxemia Disproportionate short stature Myeloid leukemia Tibial bowing Thoracolumbar kyphosis Recurrent urinary tract infections Bowel incontinence Short femoral neck Spondyloepiphyseal dysplasia Epiphyseal dysplasia Genu varum Abnormality of pelvic girdle bone morphology Tinnitus Disproportionate short-limb short stature Short long bone Acanthosis nigricans Clonus Short toe Rhizomelia Bradycardia Apraxia Narrow pelvis bone Hypoplasia of the femoral head Deformed humerus Thick skull base Delayed tarsal ossification Abnormality of joint mobility Broad ischia Flaring of rib cage Mandibular condyle hypoplasia Cervical subluxation Hypoplastic cervical vertebrae Enlarged tonsils C1-C2 subluxation Calcification of falx cerebri Abnormality of the pubic bone Proximal tapering of metacarpals Central apnea Cervical kyphosis Short mandibular rami Thoracolumbar kyphoscoliosis Calvarial hyperostosis Abnormality of the middle ear ossicles Enlargement of the wrists Abnormal hand morphology Atlantoaxial dislocation Prominent sternum Anterior rib cupping Large sella turcica Flared nostrils Enlarged vertebral pedicles Bullet-shaped phalanges of the hand Generalized tonic-clonic seizures Dysarthria Attention deficit hyperactivity disorder Iritis Small foramen magnum Childhood onset short-limb short stature Brain stem compression Limited hip extension Protruding ear Trident hand Spinal stenosis with reduced interpedicular distance Myelitis Lumbar kyphosis in infancy Hypoglycemia Delayed ossification of the hand bones Broad long bone diaphyses Neonatal hypotonia Short philtrum Bulbous nose Abnormality of eye movement Abnormal mandibular ramus morphology Abnormality of premolar morphology Abnormal mandible coronoid process morphology Waddling gait Stiff interphalangeal joints Febrile seizures Abnormality of the periventricular white matter Abnormality of the tympanic membrane Abnormality of the wing of the ilium Dry skin Knee flexion contracture Stroke Alternating exotropia Generalized myoclonic seizures Generalized muscle weakness Abnormality of the liver Renal insufficiency Blindness Fever Triangular nasal tip Overjet Paroxysmal bursts of laughter Hypoplastic philtrum Brisk reflexes Equinovarus deformity Widely-spaced maxillary central incisors Talipes calcaneovalgus Bilateral renal hypoplasia U-Shaped upper lip vermilion Short upper lip Lower limb hypertonia Asplenia Abnormality of blood and blood-forming tissues Abnormality of the face Loss of speech External genital hypoplasia Situs inversus totalis Abnormality of metabolism/homeostasis Recurrent infections Myopathy Dysphagia Downslanted palpebral fissures Tricuspid atresia Spondylolisthesis Broad face Mitral stenosis Syncope Developmental stagnation Mandibular prognathia Decreased beta-galactosidase activity Sea-blue histiocytosis Progressive psychomotor deterioration Decerebrate rigidity Vacuolated lymphocytes Loss of ability to walk Psychomotor deterioration Visceromegaly Abnormality of the spleen Slender finger Mild short stature Brachycephaly Hypergonadotropic hypogonadism Microphallus Sex reversal Thick upper lip vermilion Hypoplasia of the pons Nevus flammeus Flat occiput Hypoplasia of the brainstem Clitoral hypertrophy Oculomotor apraxia Fasciculations Cleft palate Progressive microcephaly Ambiguous genitalia Esotropia Nevus Gliosis Abnormality of the cerebral white matter Irritability Myoclonus Cerebellar hypoplasia Nystagmus Olivopontocerebellar hypoplasia Ptosis Bilateral cryptorchidism Decreased testicular size Radial deviation of finger Encephalitis Scrotal hypoplasia Intellectual disability, progressive Increased body weight Narrow face Abnormality of the genital system Thick lower lip vermilion Renal hypoplasia Vesicoureteral reflux Hypospadias Tapered finger Abnormality of the foot Nail dystrophy Microtia Abnormality of the kidney Telecanthus Cerebral cortical atrophy Hyperactivity Delayed skeletal maturation Clinodactyly Patent ductus arteriosus Narrow mouth Retinopathy Delayed menarche Dilated third ventricle Exercise-induced muscle stiffness Limited shoulder movement Abnormality of the acetabulum Thickened ribs Progressive flexion contractures Optic nerve compression Frontal hirsutism Cervical instability Mitral valve calcification Small abnormally formed scapulae Abnormality of the optic disc Aortic valve calcification Abnormality of the radius Corneal crystals Peripheral edema Wide cranial sutures Platybasia Carpal bone hypoplasia Abnormal cornea morphology Abnormality of the breast Short tubular bones of the hand Shield chest Abnormality of the humeral epiphysis Pallor Mental deterioration Elevated hepatic transaminase Dyspnea Arrhythmia Visual loss Behavioral abnormality Edema Skeletal muscle atrophy Abnormality of the styloid process of ulna Posterior scalloping of vertebral bodies Contractures of the joints of the upper limbs Widely patent coronal suture Abnormality of the lumbar spine Abnormality of the glenoid fossa Abnormality of cranial sutures Anterior scalloping of vertebral bodies Abnormality of femoral epiphysis Abnormal metaphyseal trabeculation Abnormality of the sella turcica Abnormality of the skull base Nasal obstruction Dilation of lateral ventricles Autism Myotonia Hostility Infantile axial hypotonia Central hypoventilation Bruxism Chronic constipation Central hypotonia Hypoventilation Poor eye contact Progressive spasticity Premature ovarian insufficiency Hyperkeratosis Poor head control Optic nerve hypoplasia Severe muscular hypotonia Aspiration Stereotypy Aganglionic megacolon Poor speech Autistic behavior Respiratory tract infection Anxiety Intellectual disability, mild Retrognathia Sparse pubic hair Exertional dyspnea Broad ribs Sparse axillary hair Hydrocele testis Abnormality of the ulna Hypoplastic iliac wing Chronic sinusitis Papilledema Blepharitis Hyperactive deep tendon reflexes Abnormality of dental morphology Hypermetropia Coarse hair Easy fatigability Arnold-Chiari malformation Abnormality of the metacarpal bones Congenital hip dislocation Short ribs Abnormality of retinal pigmentation Astigmatism Lower limb muscle weakness Limb muscle weakness Everted upper lip vermilion



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