Muscular hypotonia, and Proptosis
Diseases related with Muscular hypotonia and Proptosis
In the following list you will find some of the most common rare diseases related to Muscular hypotonia and Proptosis that can help you solving undiagnosed cases.
Top matches:
Medium match MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE; MCPH3
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
- Microcephaly
More info about MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE; MCPH3
Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Abnormal facial shape
More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51
- Generalized hypotonia
- Hearing impairment
- Micrognathia
- Sensorineural hearing impairment
- Cataract
More info about COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD
Other less relevant matches:
Medium match WEISSENBACHER- ZWEYMULLER SYNDROME
Weissenbacher-Zweymuller syndrome (WZS) is characterized by short stature at birth, neonatal micrognathia, cleft palate, rhizomelic chondrodysplasia with 'dumbbell' shaped arm and leg bones, hypertelorism and vertebral coronal clefts.
WEISSENBACHER- ZWEYMULLER SYNDROME Is also known as heterozygous otospondylomegaepiphyseal dysplasia|heterozygous osmed|pierre robin sequence-fetal chondrodysplasia syndrome|pierre robin syndrome-fetal chondrodysplasia syndrome
Related symptoms:
- Hypertelorism
- Micrognathia
- Muscular hypotonia
- Cleft palate
- Delayed speech and language development
More info about WEISSENBACHER- ZWEYMULLER SYNDROME
The features of Ehlers-Danlos syndrome spondylodysplastic type 2 include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999).For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see {130070}.
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2 Is also known as ehlers-danlos syndrome, progeroid type, 2, formerly|edsp2, formerly
Related symptoms:
- Global developmental delay
- Short stature
- Generalized hypotonia
- Cleft palate
- Talipes equinovarus
More info about EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2
Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.
Related symptoms:
- Global developmental delay
- Generalized hypotonia
- Failure to thrive
- Abnormal facial shape
- Low-set ears
SOURCES: OMIM ORPHANET MENDELIAN
More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCYAmong the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence.
SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME Is also known as soph syndrome
Related symptoms:
- Short stature
- Generalized hypotonia
- Growth delay
- Hypertelorism
- Strabismus
SOURCES: OMIM ORPHANET MENDELIAN
More info about SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROMEMedium match CATARACT-GLAUCOMA SYNDROME
Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.
Related symptoms:
- Seizures
- Short stature
- Generalized hypotonia
- Pain
- Feeding difficulties
More info about CATARACT-GLAUCOMA SYNDROME
Medium match CHITAYAT SYNDROME; CHYTS
Chitayat syndrome is a rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose (summary by Balasubramanian et al., 2017).
Related symptoms:
- Generalized hypotonia
- Hypertelorism
- Abnormal facial shape
- Depressed nasal bridge
- Brachydactyly
More info about CHITAYAT SYNDROME; CHYTS
Medium match FAMILIAL LAMBDOID SYNOSTOSIS
Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.
Related symptoms:
- Intellectual disability
- Hypertelorism
- Muscular hypotonia
- Spasticity
- Low-set ears
SOURCES: OMIM ORPHANET MENDELIAN
More info about FAMILIAL LAMBDOID SYNOSTOSISTop 5 symptoms//phenotypes associated to Muscular hypotonia and Proptosis
| Symptoms // Phenotype | % cases |
|---|---|
| Generalized hypotonia | Common - Between 50% and 80% cases |
| Global developmental delay | Uncommon - Between 30% and 50% cases |
| Hypertelorism | Uncommon - Between 30% and 50% cases |
| Frontal bossing | Uncommon - Between 30% and 50% cases |
| Macrocephaly | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms
Patients with Muscular hypotonia and Proptosis. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Delayed speech and language development Short stature Abnormal facial shape Posteriorly rotated ears Depressed nasal bridge Facial asymmetryRare Symptoms - Less than 30% cases
Clinodactyly Myopia Syndactyly Micrognathia Telecanthus Long philtrum Brachydactyly Small hand Cleft palate Respiratory failure Respiratory distress Low-set ears Retrognathia Midface retrusion Anteverted nares Pectus excavatum Prominent forehead Abnormality of the foot Increased intracranial pressure Craniosynostosis Cutis laxa Brachycephaly Intellectual disability Hearing impairment Epicanthus Growth delay Sensorineural hearing impairment Seizures Malar flattening Round ear Prominent scalp veins Ectopic posterior pituitary Vomiting Abnormality of the dentition Headache Constipation Craniofacial dysostosis Hypertension Pneumonia Arthralgia Arthritis Lambdoidal craniosynostosis Waddling gait Bone pain Dimple chin Fever Nonprogressive visual loss Feeding difficulties Narrow forehead Micromelia Pansynostosis Long face Thin vermilion border Thick eyebrow Single transverse palmar crease Progressive visual loss Fine hair Pain Sandal gap Dyschromatopsia Diminished ability to concentrate Achromatopsia Prominent glabella Blue cone monochromacy Hyposegmentation of neutrophil nuclei Hypercalcemia Stomatocytosis Premature loss of teeth Rickets Parietal bossing Short middle phalanx of finger Hallux valgus Interstitial pulmonary abnormality Exertional dyspnea Abnormality of digit Tracheomalacia Short columella Bronchomalacia Bronchospasm Optic nerve hypoplasia Intercostal retractions Microretrognathia Spasticity Hydrocephalus Downturned corners of mouth Hypertonia Short nose Blepharophimosis Plagiocephaly Flat occiput Osteomalacia External ear malformation Protruding ear Papilledema Chondrocalcinosis Chronic pain Premature loss of primary teeth Anterior plagiocephaly Arnold-Chiari type I malformation Pulmonary insufficiency Recurrent respiratory infections Abnormality of the hand Dyspnea Polyhydramnios Respiratory tract infection Finger syndactyly Thick vermilion border Hypermetropia Broad thumb Tachypnea Highly arched eyebrow Type I diabetes mellitus Postnatal growth retardation Shallow orbits Microphthalmia Coloboma Congenital cataract Microcornea Congenital sensorineural hearing impairment Preauricular pit Albinism Premature graying of hair Osteopetrosis Tall stature Blue irides Generalized hypopigmentation Hyperactivity Conductive hearing impairment Muscular hypotonia of the trunk Attention deficit hyperactivity disorder Rhizomelia Delayed gross motor development Metaphyseal widening Cataract Febrile seizures Short femur Widely spaced teeth Microcephaly Behavioral abnormality Aggressive behavior Intellectual disability, moderate Prominent nose Sloping forehead Cafe-au-lait spot Progressive microcephaly Cortical gyral simplification Microtia Severe sensorineural hearing impairment Small cerebral cortex Cryptorchidism Motor delay Ventriculomegaly Immunodeficiency Absent speech Autism Autistic behavior Glossoptosis Coronal cleft vertebrae Reduced visual acuity Short chin Camptodactyly Autoimmunity Dolichocephaly Malabsorption Asthma Hepatitis Abnormal lung morphology Chronic diarrhea Abnormal intestine morphology Diabetes mellitus Relative macrocephaly Prominent occiput Chronic lung disease Interstitial pneumonitis Strabismus Optic atrophy Short neck Blindness Delayed skeletal maturation Hypothyroidism Splenomegaly Abnormality of the mandible Blue sclerae Submucous cleft soft palate Mild neurosensory hearing impairment Talipes equinovarus Kyphoscoliosis Osteopenia Sparse hair Hip dislocation Platyspondyly Flat face Decreased body weight Diarrhea Hyperextensible skin Epiphyseal dysplasia Flared metaphysis Carpal synostosis Long upper lip Advanced ossification of carpal bones Craniofacial disproportion Failure to thrive Hepatomegaly Posterior plagiocephalyIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Optic atrophy and Pectus excavatum, related diseases and genetic alterations Hyperreflexia and Dolichocephaly, related diseases and genetic alterations Depressed nasal bridge and Myocardial infarction, related diseases and genetic alterations Immunodeficiency and Paraplegia, related diseases and genetic alterations Peripheral neuropathy and Splenomegaly, related diseases and genetic alterations