Failure to thrive, and Lumbar hyperlordosis

Diseases related with Failure to thrive and Lumbar hyperlordosis

In the following list you will find some of the most common rare diseases related to Failure to thrive and Lumbar hyperlordosis that can help you solving undiagnosed cases.

Top matches:

Infantile mitochondrial myopathy due to reversible COX deficiency is a rare mitochondrial disorder characterized by onset in infancy of severe hypotonia and generalized muscle weakness associated with lactic acidosis, but is distinguished from other mitochondrial disorders in that affected individuals recover spontaneously after 1 year of age (summary by Mimaki et al., 2010).See also transient infantile liver failure (LFIT ), which is a similar disorder.

MITOCHONDRIAL MYOPATHY WITH REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY Is also known as mitochondrial myopathy with reversible complex iv deficiency|mitochondrial myopathy with reversible cox deficiency|cox deficiency myopathy, infantile, transient|benign cox deficiency|mitochondrial myopathy, infantile, transient, due to respiratory chain d

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Ptosis
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY WITH REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY

Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm|fiber-type disproportion myopathy, congenital

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome (see this term) that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.

MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM Is also known as mtdna depletion syndrome, myopathic form|mitochondrial dna depletion myopathy, tk2-related

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Muscle weakness
  • Muscular hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 6; MGORS6

Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.

X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE Is also known as fgs1|keller syndrome|fg syndrome|fgs|x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|fg syndrome 1|micpch

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME Is also known as hyperostosis generalisata with striations|robinow-unger syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

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

Top 5 symptoms//phenotypes associated to Failure to thrive and Lumbar hyperlordosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hyperlordosis Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Gastroesophageal reflux Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Failure to thrive and Lumbar hyperlordosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Frontal bossing Flexion contracture Strabismus Macrocephaly Abnormality of the skeletal system Micrognathia Cryptorchidism Hearing impairment Ptosis Facial palsy Downslanted palpebral fissures Growth delay Myopathy Severe short stature Respiratory failure Hypertelorism Motor delay Pneumonia Respiratory insufficiency Short neck Joint laxity High palate Macrotia Cleft palate Cognitive impairment Short stature Dilatation Delayed speech and language development Anteverted nares Broad forehead Posteriorly rotated ears Prominent forehead Respiratory tract infection Muscular hypotonia Myopia Ventricular septal defect Cataract Microtia Thick vermilion border Microcephaly Abnormal facial shape Wide nasal bridge Epicanthus Constipation Brachycephaly Visual impairment Skeletal dysplasia Anal stenosis Aganglionic megacolon Open mouth Recurrent infections Single transverse palmar crease Hypothyroidism Neonatal hypotonia Cardiomyopathy Waddling gait Muscle weakness Respiratory insufficiency due to muscle weakness Ophthalmoplegia Respiratory distress Long face

Rare Symptoms - Less than 30% cases

Narrow chest Poor speech Delayed closure of the anterior fontanelle Facial hypotonia Decreased fetal movement Generalized myoclonic seizures Short metacarpal Otitis media Partial agenesis of the corpus callosum Rhizomelia Pyloric stenosis Disproportionate short-limb short stature Short metatarsal Sacral dimple Thoracic scoliosis Anxiety Abnormality of the hip bone Mitochondrial myopathy Neoplasm Pain Spasticity Low-set ears Gait disturbance Thrombocytopenia Talipes equinovarus Postnatal macrocephaly Neurological speech impairment Malar flattening Hypospadias Ragged-red muscle fibers Mandibular prognathia Polyhydramnios Deeply set eye Narrow palate Flat occiput Dental crowding Tibial bowing Anal atresia Behavioral abnormality Long philtrum Syndactyly Abnormality of cardiovascular system morphology Clinodactyly Patent ductus arteriosus Abnormal heart morphology Cerebellar hypoplasia Areflexia Dolichocephaly Hepatomegaly Hyperactivity Severe global developmental delay Sparse hair Cleft lip Intellectual disability, moderate Camptodactyly Hydrocephalus Optic atrophy Joint contracture of the hand Prominent nose Pectus excavatum Generalized muscle weakness Hepatic failure Thick lower lip vermilion Fine hair Fibular aplasia Webbed neck Laryngeal stenosis Elevated serum creatine phosphokinase Intestinal malrotation Thin vermilion border Cleft upper lip Lactic acidosis Nystagmus Sensorineural hearing impairment Pes planus Acidosis Tracheomalacia Severe lactic acidosis Clinodactyly of the 5th finger Proximal muscle weakness High, narrow palate Arachnodactyly Retrognathia Limb muscle weakness Muscular dystrophy Intrauterine growth retardation Short nose Abnormality of retinal pigmentation Midface retrusion Hernia Delayed skeletal maturation Recurrent respiratory infections Diabetes mellitus High forehead Gingival overgrowth Narrow forehead Conductive hearing impairment Joint hypermobility Clumsiness Infantile muscular hypotonia Multiple joint contractures Metaphyseal widening Weak cry Joint hyperflexibility Small hand Nasal speech Neutropenia Gynecomastia Intellectual disability, progressive Convex nasal ridge Abnormality of the metaphysis Delayed gross motor development Umbilical hernia Paralysis Skeletal muscle atrophy Delayed puberty Laryngomalacia Sandal gap Microretrognathia Depressed nasal ridge Growth hormone deficiency Delayed myelination Craniosynostosis Misalignment of teeth Wide mouth Small for gestational age High hypermetropia Lymphoma Portal hypertension Paranasal sinus hypoplasia Hypopigmentation of the skin Alobar holoprosencephaly Immunodeficiency Splenomegaly Postural instability Laryngotracheomalacia Genu varum Gastrointestinal hemorrhage Metaphyseal striations Decreased antibody level in blood Osteopathia striata Facial hyperostosis Metaphyseal chondrodysplasia Aplasia/Hypoplasia affecting the eye Short palm Abnormality of pelvic girdle bone morphology Micromelia Abnormal cardiac septum morphology Limited elbow extension Alopecia EEG abnormality Carcinoma Metaphyseal cupping Low-set, posteriorly rotated ears Accelerated skeletal maturation Pectus carinatum Abnormality of the ribs Leukemia Neoplasm of the skin Arthrogryposis multiplex congenita Abnormal palate morphology Reduced tendon reflexes Hypotrichosis Cellular immunodeficiency Malabsorption Femoral bowing Sparse eyelashes Mesomelia Esophageal atresia Hypocalcemia Laryngeal web Overweight Thrombocytosis Exocrine pancreatic insufficiency Distal arthrogryposis Large iliac wings Hypoplasia of the odontoid process Short ribs Hodgkin lymphoma Short thorax Diarrhea Macrocytic anemia Craniofacial osteosclerosis Hypertension Anemia Unilateral facial palsy Upper limb undergrowth Heart block Metaphyseal dysplasia B-cell lymphoma Blue sclerae Cone-shaped epiphysis Abnormal form of the vertebral bodies Aplasia/Hypoplasia of the abdominal wall musculature Basal cell carcinoma Bowing of the long bones Aplastic anemia Generalized joint laxity Straight clavicles Bronchiectasis Abnormality of epiphysis morphology Tracheal stenosis Squamous cell carcinoma High iliac wings Sparse and thin eyebrow Lymphopenia Fair hair Abnormality of the pancreas Feeding difficulties in infancy Abnormality of chromosome stability Failure to thrive in infancy Posterior subcapsular cataract Hiatus hernia Peripheral visual field loss Subcapsular cataract Celiac disease Narrow nasal bridge Truncal obesity Disproportionate tall stature Cerebral hemorrhage Abnormality of dental morphology Constriction of peripheral visual field Cubitus valgus Rheumatoid arthritis Intracranial hemorrhage Microglossia Radioulnar synostosis Precocious puberty Reduced number of teeth Recurrent skin infections Venous thrombosis Leukopenia Low anterior hairline Preauricular skin tag Progressive microcephaly Exotropia Long eyelashes Tall stature High myopia Gingivitis Vocal cord paralysis Pigmentary retinopathy Cutis gyrata of scalp Tremor Slender toe Cat cry Hypoplastic philtrum Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Prominent eyelashes Thick corpus callosum High-pitched cry Chorioretinal dysplasia Narrow philtrum Narrow palm Hemeralopia Chorioretinal dystrophy Deep venous thrombosis Hyperplasia of the maxilla Congenital neutropenia Granulocytopenia Bull's eye maculopathy Macrodontia Iris atrophy Thick hair Tapetoretinal degeneration Recurrent aphthous stomatitis Aplasia/Hypoplasia of the earlobes Abnormality of the larynx Bone spicule pigmentation of the retina Macular edema Furrowed tongue Mitral valve prolapse Progressive visual loss Bronchiolitis Narrow vertebral interpedicular distance Edema Pulmonary lymphoma Susceptibility to chickenpox Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Biconvex vertebral bodies Severe T-cell immunodeficiency Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Metaphyseal dysostosis Non-Hodgkin lymphoma Long fibula Abnormality of the distal phalanx of finger Kyphosis Abnormal T cell morphology Hypoplastic anemia Abnormally ossified vertebrae Abnormal bone ossification Neonatal short-limb short stature Congenital hypoplastic anemia Spinal dysraphism Large face Hypersplenism Normocytic anemia Mucopolysacchariduria Abnormal diaphysis morphology Diaphyseal thickening Blindness Microphthalmia Aciduria Synophrys Hypoplasia of the maxilla Microcornea Tapered finger Highly arched eyebrow Retinal detachment Retinal dystrophy Iris coloboma Thick eyebrow Abnormality of skin pigmentation Retinal degeneration Astigmatism Smooth philtrum Genu valgum Finger syndactyly Obesity Prominent nasal bridge Short philtrum Stroke Nyctalopia Retinopathy Protruding ear Postnatal growth retardation Rough bone trabeculation Arthritis Thin upper lip vermilion Kyphoscoliosis Reduced visual acuity Rod-cone dystrophy Visual loss Broad clavicles Bowing of the legs Flexion contracture of toe Subglottic stenosis Autistic behavior Proptosis Autism Weight loss Abdominal pain Depressivity Vomiting Brachydactyly Hyperreflexia Nasogastric tube feeding Tracheobronchomalacia Bronchomalacia Talipes Entropion Patellar aplasia Hypoplastic labia majora Stenosis of the external auditory canal Cortical gyral simplification Emphysema Short middle phalanx of finger Hip dysplasia Underdeveloped nasal alae Depletion of mitochondrial DNA in muscle tissue Loss of ability to walk in early childhood Generalized tonic-clonic seizures Nausea Weak voice Abnormality of the outer ear Bell-shaped thorax Loss of speech Short humerus Atonic seizures Progressive spasticity Spondyloepiphyseal dysplasia Clubbing Oral-pharyngeal dysphagia Elbow dislocation Hyperkinesis Drooling Joint dislocation Inability to walk Absence seizures Recurrent pneumonia Muscle stiffness Meningitis Aspiration Sinusitis Recurrent urinary tract infections Encephalocele Limb undergrowth Premature birth Abdominal distention Generalized aminoaciduria Decreased activity of mitochondrial respiratory chain Short femur Dysphagia Hyperinsulinemia Congenital hip dislocation Narrow face Insulin resistance Progressive muscle weakness Atrial fibrillation Hirsutism Lower limb muscle weakness Dilated cardiomyopathy Muscular hypotonia of the trunk Osteopenia Muscle fiber hypertrophy Glucose intolerance Increased muscle glycogen content Increased muscle lipid content Cytochrome C oxidase-negative muscle fibers Increased serum pyruvate Decreased plasma carnitine Neck muscle weakness Myopathic facies Increased serum lactate Macroglossia Myalgia Hyporeflexia Hyperglycemia Bulbar palsy Respiratory arrest Aminoaciduria Abnormality of the basal ganglia Facial diplegia Progressive external ophthalmoplegia Ankle contracture Generalized amyotrophy Decreased muscle mass Toe walking Gowers sign EMG: myopathic abnormalities External ophthalmoplegia Scapular winging Irritability Glycosuria Cerebral atrophy Fatigue Type 1 fibers relatively smaller than type 2 fibers Postprandial hyperglycemia Spinal deformities Abnormal glucose tolerance Limb joint contracture Nemaline bodies Insulin-resistant diabetes mellitus Difficulty running Centrally nucleated skeletal muscle fibers Radial bowing 11 pairs of ribs Asymmetry of the thorax Omphalocele Cutaneous syndactyly Holoprosencephaly Spina bifida occulta Osteolysis Spontaneous abortion Multicystic kidney dysplasia Spina bifida Increased bone mineral density Aortic valve stenosis Abnormal vertebral morphology Large fontanelles Coarctation of aorta Increased susceptibility to fractures Oligohydramnios Cerebral calcification Specific learning disability Wide intermamillary distance Abnormality of the skin Dental malocclusion Bifid uvula Broad nasal tip Delayed eruption of teeth Flat face Apnea Mutism Overfolded helix Headache Pierre-Robin sequence Sclerosis of skull base Thoracolumbar kyphosis Otosclerosis White forelock Facial paralysis Large forehead Broad ribs Thoracic dysplasia Ectopic anus Echolalia Osteopetrosis Ankylosis Nephroblastoma Fibular hypoplasia Submucous cleft hard palate Natal tooth Thickened calvaria Mixed hearing impairment Visual field defect Hypoplastic left heart Dysphasia Aphasia Delayed cranial suture closure Hyperostosis Hydronephrosis Intellectual disability, mild Fused cervical vertebrae Agenesis of corpus callosum Heterotopia Choanal atresia Split hand Triangular face Downturned corners of mouth Unsteady gait Attention deficit hyperactivity disorder Telecanthus Aggressive behavior Rigidity Cerebral cortical atrophy Inguinal hernia Broad thumb Absent speech Distal tapering femur Multinucleated giant chondrocytes in epiphyseal cartilage Club-shaped proximal femur Thoracic platyspondyly Multiple joint dislocation Aplasia/Hypoplasia of the ulna Long clavicles Intestinal pseudo-obstruction Coronal cleft vertebrae Lethal skeletal dysplasia Pachygyria Wide anterior fontanel Abnormality of the dentition Gastrointestinal dysmotility Intellectual disability, severe Atrial septal defect Hypoplasia of the corpus callosum Ventriculomegaly Facial wrinkling Auricular pit Microtia, first degree Prominent fingertip pads Frontal upsweep of hair Abnormality of the nasopharynx Sagittal craniosynostosis Megalencephaly Plagiocephaly Skin tags Anteriorly placed anus Abnormality of the sternum Broad hallux High pitched voice Radial deviation of finger Impulsivity Chorioretinal coloboma Congenital contracture Relative macrocephaly Optic nerve hypoplasia Focal-onset seizure


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