Muscular hypotonia, and Abnormality of the ribs

Diseases related with Muscular hypotonia and Abnormality of the ribs

In the following list you will find some of the most common rare diseases related to Muscular hypotonia and Abnormality of the ribs that can help you solving undiagnosed cases.

Top matches:

Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.

FETAL AKINESIA-CEREBRAL AND RETINAL HEMORRHAGE SYNDROME Is also known as myopathy, centronuclear, lethal, autosomal recessive|lethal congenital contracture syndrome type 5|lccs5

Related symptoms:

  • Generalized hypotonia
  • Flexion contracture
  • Peripheral neuropathy
  • Respiratory insufficiency
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about FETAL AKINESIA-CEREBRAL AND RETINAL HEMORRHAGE SYNDROME

An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets.

VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B Is also known as 25-hydroxyvitamin d3 deficiency, selective|pseudovitamin d3 deficiency rickets due to 25-hydroxylase deficiency|vitamin d-dependent rickets, type 1b

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MESH MENDELIAN

More info about VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Low-set ears
  • Brachydactyly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19

Other less relevant matches:

Hereditary hypophosphatemic rickets with hypercalciuria is a rare autosomal recessive disorder characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. HHRH is distinct from other forms of hypophosphatemic rickets in that affected individuals present with hypercalciuria due to increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption (summary by Bergwitz et al., 2006).

HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH Is also known as hypercalciuric rickets

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH

Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community.

AMISH NEMALINE MYOPATHY Is also known as amish nemaline myopathy|anm|nemaline myopathy, amish type

Related symptoms:

  • Intellectual disability
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy
  • Tremor


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AMISH NEMALINE MYOPATHY

Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.

AURICULOCONDYLAR SYNDROME Is also known as question mark ear syndrome|question mark ears syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME

Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.

Related symptoms:

  • Low-set ears
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about SEVERE CONGENITAL NEMALINE MYOPATHY

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

Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmetal delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.

AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE Is also known as chondrodysplasia, megarbane-dagher-melki type

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE

Joubert syndrome is an autosomal recessive congenital condition characterized by a unique brainstem and cerebellar malformation comprising cerebellar vermis hypoplasia and/or dysplasia, elongated superior cerebellar peduncles, and deepened interpeduncular fossa, which together are recognized as the 'molar tooth sign' on brain MRI. The most common clinical features include delayed psychomotor development, hypotonia, abnormal respiratory patterns in the neonatal period, oculomotor apraxia, and cerebellar ataxia. Additional features may include retinal degeneration, cystic kidney, liver fibrosis, and polydactyly. It is caused by ciliary defects and is part of a spectrum of disorders known as 'ciliopathies' (summary by Akizu et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 21; JBTS21

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Abnormality of the ribs

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Low-set ears Uncommon - Between 30% and 50% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscular hypotonia and Abnormality of the ribs. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Thin bony cortex Delayed epiphyseal ossification Femoral bowing Pulmonary hypoplasia Short ribs Recurrent fractures Frontal bossing Growth delay Flexion contracture Large fontanelles Thin ribs

Rare Symptoms - Less than 30% cases

Skeletal muscle atrophy Sensorineural hearing impairment Bulging of the costochondral junction Deformed rib cage Hearing impairment Ptosis Type 1 muscle fiber predominance Respiratory distress Nemaline bodies Prominent forehead Narrow chest Respiratory failure Intellectual disability Micromelia Tachypnea Apnea Short stature Bell-shaped thorax Sparse bone trabeculae Wormian bones Round face Bulging epiphyses Polydactyly Enlargement of the ankles Metaphyseal irregularity Dysphagia Myopathy Polyhydramnios Small for gestational age Decreased fetal movement Hypokinesia Failure to thrive Muscle weakness Enlargement of the costochondral junction Difficulty walking Bone pain Elevated alkaline phosphatase Rickets Micrognathia Tibial bowing Difficulty standing Enlargement of the wrists Flat occiput Widely patent fontanelles and sutures Bowing of the legs Fibular bowing Hypophosphatemia Generalized osteoporosis Biconcave vertebral bodies Depressed nasal bridge Hypertension Severe muscular hypotonia Anteverted nares Facial diplegia Short nose Short neck Congestive heart failure Abnormality of the thorax Dilatation Premature birth Delayed skeletal maturation Muscular hypotonia of the trunk Ophthalmoplegia Adducted thumb Edema of the dorsum of hands Breech presentation Arachnodactyly Delayed speech and language development Wide nasal bridge Abnormality of the dentition Hernia Pneumonia Umbilical hernia Joint laxity Broad forehead Joint hypermobility Abnormality of the diaphragm Multiple prenatal fractures Bowing of the long bones Axial muscle weakness Long eyelashes Increased connective tissue Disproportionate tall stature Pathologic fracture Long palpebral fissure Vertebral compression fractures Blue sclerae Seizures Postnatal growth retardation Hypoplasia of the brainstem Renal cyst Dandy-Walker malformation Apraxia Cerebellar vermis hypoplasia Encephalocele Heterotopia Hepatic fibrosis Decreased liver function Oculomotor apraxia Anophthalmia Retinal degeneration Molar tooth sign on MRI Nephronophthisis Occipital encephalocele Abnormal pattern of respiration Hydranencephaly Hyperechogenic kidneys Wide cranial sutures Posterior fossa cyst Elongated superior cerebellar peduncle Cerebellar malformation Polymicrogyria Retinopathy Microtia Hypoplastic ischia Platyspondyly Wide nose Limb undergrowth Cardiomegaly Pulmonary arterial hypertension Wide anterior fontanel Short long bone Deep philtrum Spondylometaphyseal dysplasia Metaphyseal cupping Squared iliac bones Dyspnea Severe platyspondyly Dysplastic sacrum Iliac crest serration Facial palsy Ataxia Nystagmus Strabismus Ventriculomegaly Hypoplasia of the corpus callosum Cerebellar hypoplasia Arthrogryposis multiplex congenita Facial cleft Micropenis Increased serum 1,25-dihydroxyvitamin D3 Pain Nephrolithiasis Hypercalciuria Osteomalacia Abnormality of abdomen morphology Renal tubular dysfunction Hypophosphatemic rickets Renal phosphate wasting Calcium nephrolithiasis Tremor Lateral clavicle hook Hypoglycemia Rigidity Neonatal hypotonia Pectus carinatum Progressive muscle weakness Hypocalcemia Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Delayed gross motor development Horizontal ribs Hypoplastic ilia Proximal amyotrophy Ventricular septal defect Peripheral neuropathy Areflexia Elevated serum creatine phosphokinase Decreased nerve conduction velocity Congenital contracture Centrally nucleated skeletal muscle fibers Abnormal lower motor neuron morphology Retinal hemorrhage Brachydactyly Long philtrum Thoracic dysplasia Syndactyly Midface retrusion Cleft lip Dolichocephaly Oral cleft Postaxial polydactyly Hypoplasia of the radius Relative macrocephaly Thoracic hypoplasia Prominent occiput Hip contracture Abnormality of the rib cage Hypospadias Mandibular condyle hypoplasia Impaired mastication Hamartoma of tongue Snoring Difficulty in tongue movements Speech articulation difficulties Overfolding of the superior helices Anterior open-bite malocclusion Hypoplastic superior helix Question mark ear Abnormality of the temporomandibular joint Microglossia Hypoplasia of first ribs Mandibular condyle aplasia Periauricular skin pits Aplasia/Hypoplasia of the external ear Vein of Galen aneurysmal malformation Cleft at the superior portion of the pinna Cleft helix Abnormality of the crus of the helix Postauricular skin tag Stenosis of the external auditory canal Obstructive sleep apnea Decreased hip abduction Protruding ear Shoulder flexion contracture Cleft palate Feeding difficulties Macrocephaly Downslanted palpebral fissures Posteriorly rotated ears Narrow mouth Low-set, posteriorly rotated ears Abnormality of the pinna Facial asymmetry Ankylosis Full cheeks Bifid uvula Dental malocclusion Dental crowding Preauricular skin tag Abnormality of the outer ear Atresia of the external auditory canal Cupped ear External ear malformation Glossoptosis Single naris


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