Arthritis, and Narrow forehead

Diseases related with Arthritis and Narrow forehead

In the following list you will find some of the most common rare diseases related to Arthritis and Narrow forehead that can help you solving undiagnosed cases.


Top matches:

Medium match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Low 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

Low match INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME


Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

Mendelian

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

Learn more

Other less relevant matches:

Low match ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT; AMCNMY


AMCNMY is an autosomal recessive severe neurologic disorder with onset in utero. Most affected individuals die in utero or are subject to pregnancy termination because of lack of fetal movements and prenatal evidence of contractures of virtually all joints. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect (summary by Xue et al., 2017).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT; AMCNMY

Low match INTELLECTUAL DISABILITY, BIRK-BAREL TYPE


Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

INTELLECTUAL DISABILITY, BIRK-BAREL TYPE Is also known as intellectual disability-hypotonia-facial dysmorphism syndrome|birk-barel mental retardation dysmorphism syndrome|mental retardation with hypotonia and facial dysmorphism

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY, BIRK-BAREL TYPE

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61; EIEE61


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61; EIEE61

Low match NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA


NMIHBA is a severe, autosomal recessive, neurodevelopmental, and neurodegenerative disorder characterized by global developmental delay apparent from infancy and profound intellectual disability. Affected individuals have microcephaly with accompanying dysmorphic features, truncal hypotonia, peripheral spasticity, and lack of independent ambulation or speech acquisition. Brain imaging shows variable abnormalities, including cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination (summary by Zollo et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA

Low match SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA


Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.

SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA Is also known as ap4 deficiency syndrome|cpsq4, formerly|cerebral palsy, spastic quadriplegic, 4, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA

Low match OSTEOGENESIS IMPERFECTA, TYPE X; OI10


Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type X is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclera (Christiansen et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE X; OI10 Is also known as oi, type x

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE X; OI10

Top 5 symptoms//phenotypes associated to Arthritis and Narrow forehead

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Arthritis and Narrow forehead. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Microcephaly Flexion contracture Spasticity Facial hypotonia Open mouth Muscular hypotonia Strabismus Absent speech Micrognathia Talipes equinovarus Neonatal hypotonia Short philtrum Short stature Macrocephaly Retrognathia Pes planus Poor speech Protruding ear Downslanted palpebral fissures Wide mouth Hyperreflexia Intellectual disability, severe Scoliosis Hypoplasia of the corpus callosum Ventriculomegaly Babinski sign

Rare Symptoms - Less than 30% cases


Highly arched eyebrow Cerebral cortical atrophy Dystonia High forehead Tetraplegia Narrow chest Talipes Cerebellar atrophy Thick vermilion border Thick eyebrow Genu valgum High, narrow palate Wide nasal bridge Cerebral atrophy Spastic paraplegia Waddling gait Spastic tetraplegia Paraplegia Genu recurvatum Acetabular dysplasia Everted upper lip vermilion Frontal bossing Bulbous nose Hypoglycemia Coarse facial features Tented upper lip vermilion Pyloric stenosis Skeletal muscle atrophy Progressive microcephaly Abnormality of the periventricular white matter Hypertonia Respiratory distress Cerebellar hypoplasia Generalized joint laxity Blindness Optic atrophy Myopia Depressed nasal bridge Macrotia Ptosis Malar flattening Cataract Joint laxity Nystagmus Hypertelorism Hearing impairment Feeding difficulties in infancy Increased head circumference Blue sclerae Congenital muscular torticollis Areflexia Camptodactyly Abnormal lung morphology Arthrogryposis multiplex congenita Pulmonary hypoplasia Esotropia Progressive spastic paraplegia Microretrognathia Dental crowding Elbow flexion contracture Knee flexion contracture Scapular winging Torticollis Poor head control Akinesia Hip contracture Distal arthrogryposis Ankle contracture Fetal akinesia sequence Internally rotated shoulders Muscle weakness Nephrolithiasis Hydrocephalus Congenital hip dislocation Increased susceptibility to fractures Dentinogenesis imperfecta Chronic lung disease Broad ribs Vertebral compression fractures Shallow orbits Thin ribs Femoral bowing Inability to walk High pitched voice Febrile seizures Protruding tongue Chronic diarrhea Chronic kidney disease Excessive salivation Relative macrocephaly Coxa valga Wormian bones Feeding difficulties Diarrhea Deeply set eye Hip dislocation Wide anterior fontanel Overgrowth Cleft palate Hyperactivity Limb undergrowth Narrow palate Inguinal hernia Muscular hypotonia of the trunk Abnormality of the cerebral white matter Midface retrusion Prominent antihelix Shyness Spastic dysarthria Delayed myelination Sloping forehead Hypsarrhythmia Tetraparesis Cerebral visual impairment Clonus Spastic tetraparesis Osteopenia Plagiocephaly Multiple joint contractures Hypoventilation Central hypotonia Central hypoventilation Difficulty walking Amblyopia Stereotypy Narrow face Pointed chin Drooling Overweight Decreased muscle mass Prominent forehead Low-set ears Dysphagia Fever Depressivity Long nose Dolichocephaly Broad nasal tip Sacral dimple Dysphonia Spinal muscular atrophy Oral-pharyngeal dysphagia Neonatal hypoglycemia Broad eyebrow Tented philtrum Triangular face Submucous cleft soft palate Hyperhidrosis Intellectual disability, profound Dry skin Hypodontia Ectodermal dysplasia Micromelia Osteomyelitis Cellulitis Periorbital edema Conical incisor Platyspondyly Recurrent streptococcus pneumoniae infections Hydronephrosis Encephalopathy Epileptic encephalopathy Generalized-onset seizure Proptosis Hyperplasia of the maxilla Dysarthria Delayed puberty Abnormality of skin pigmentation Retinal degeneration Arachnodactyly Astigmatism Smooth philtrum Joint hyperflexibility Synophrys Iris coloboma Severe global developmental delay Neurological speech impairment Finger syndactyly Small for gestational age Prominent nasal bridge Stroke Joint hypermobility Retinal dystrophy Retinopathy Prominent nose Pigmentary retinopathy Progressive visual loss Convex nasal ridge Otitis media Aciduria Growth hormone deficiency Short metacarpal Small hand Hypoplasia of the maxilla Microcornea Neutropenia Single transverse palmar crease Tapered finger Retinal detachment Nyctalopia Paralysis Decreased fetal movement Abnormality of the skeletal system Microphthalmia Kyphosis Behavioral abnormality Edema Cardiomyopathy Ventricular septal defect Intrauterine growth retardation Recurrent infections Motor delay Visual impairment Cryptorchidism Sensorineural hearing impairment Failure to thrive Growth delay Dilatation Thrombocytopenia Respiratory tract infection Hypothyroidism Postnatal growth retardation Intellectual disability, moderate Thin upper lip vermilion Kyphoscoliosis Gastroesophageal reflux Mandibular prognathia Reduced visual acuity Hernia Diabetes mellitus Rod-cone dystrophy Clinodactyly of the 5th finger Visual loss Pectus excavatum Obesity Mitral valve prolapse High myopia Delayed speech and language development Abnormality of the larynx Macrodontia Iris atrophy Thick hair Tapetoretinal degeneration Recurrent aphthous stomatitis Aplasia/Hypoplasia of the earlobes Bone spicule pigmentation of the retina Granulocytopenia Macular edema Furrowed tongue Deep venous thrombosis Misalignment of teeth Vocal cord paralysis Microglossia Bull's eye maculopathy Congenital neutropenia Posterior subcapsular cataract Thick corpus callosum Slender toe Cat cry Hypoplastic philtrum Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Prominent eyelashes High-pitched cry Laryngeal stenosis Chorioretinal dysplasia Narrow philtrum Narrow palm Hemeralopia Cutis gyrata of scalp Chorioretinal dystrophy Gingivitis Hiatus hernia Lumbar hyperlordosis Low anterior hairline Laryngomalacia Recurrent skin infections Venous thrombosis Leukopenia Sandal gap Intellectual disability, progressive Preauricular skin tag Short metatarsal Abnormality of retinal pigmentation Gingival overgrowth Exotropia Long eyelashes Tall stature Clumsiness Reduced number of teeth Precocious puberty Peripheral visual field loss Truncal obesity Thoracic scoliosis Subcapsular cataract Weak cry Celiac disease Narrow nasal bridge Abnormality of the hip bone Disproportionate tall stature Radioulnar synostosis Cerebral hemorrhage Abnormality of dental morphology Constriction of peripheral visual field Cubitus valgus Rheumatoid arthritis Failure to thrive in infancy Intracranial hemorrhage Ureteropelvic junction obstruction



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Gait ataxia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more