Failure to thrive, and Genu valgum

Diseases related with Failure to thrive and Genu valgum

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

Top matches:

Generalized arterial calcification of infancy (GACI) is a severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. GACI is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure (summary by Rutsch et al., 2003 and Cheng et al., 2005). Genetic Heterogeneity of Arterial CalcificationGeneralized arterial calcification of infancy-2 (GACI2 ) is caused by mutation in the ABCC6 gene (OMIM ) on chromosome 16p13.Homozygous or compound heterozygous mutation in the NT5E gene (OMIM ) can cause adult-onset of calcification of arteries and joints (OMIM ).

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1 Is also known as iiac|idiopathic infantile arterial calcification|gaci|arteriopathy, occlusive infantile|arterial calcification, idiopathic infantile

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Hypertension
  • Respiratory distress


SOURCES: OMIM MENDELIAN

More info about ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1

Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.

MULTIPLE OSTEOCHONDROMAS Is also known as multiple cartilaginous exostoses|bessel-hagen disease

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about MULTIPLE OSTEOCHONDROMAS

Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.

OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS Is also known as mixed rta|mixed renal tubular acidosis|renal tubular acidosis type 3|rta, bicarbonate-wasting type|rta, dislocation type|guibaud-vainsel syndrome|carbonic anhydrase 2 deficiency|marble brain disease

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Failure to thrive
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS

Other less relevant matches:

Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The classic facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile (Rubinstein and Taybi, 1963; review by Hennekam, 2006).About 50 to 70% of patients have RSTS1 due to mutation in the CREBBP gene (OMIM ). RSTS2 is much less common, and about 3% of patients have mutations in the EP300 gene. RSTS2 appears to be associated with a milder phenotype than RSTS1. Patients with RSTS2 have less severe facial dysmorphism and better cognitive function, but may have more severe microcephaly and malformation of facial bone structures compared to those with RSTS1 (Bartsch et al., 2010).For a discussion of genetic heterogeneity of Rubinstein-Taybi syndrome, see RSTS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY

Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001).Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). Genetic Heterogeneity of Nemaline MyopathySee also NEM1 (OMIM ), caused by mutation in the tropomyosin-3 gene (TPM3 ) on chromosome 1q22; NEM2 (OMIM ), caused by mutation in the nebulin gene (NEB ) on chromosome 2q23; NEM4 (OMIM ), caused by mutation in the beta-tropomyosin gene (TPM2 ) on chromosome 9p13; NEM5 (OMIM ), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1 ) on chromosome 19q13; NEM6 (OMIM ), caused by mutation in the KBTBD13 gene (OMIM ) on chromosome 15q22; NEM7 (OMIM ), caused by mutation in the cofilin-2 gene (CFL2 ) on chromosome 14q13; NEM8 (OMIM ), caused by mutation in the KLHL40 gene (OMIM ), on chromosome 3p22; NEM9 (OMIM ), caused by mutation in the KLHL41 gene (OMIM ) on chromosome 2q31; NEM10 (OMIM ), caused by mutation in the LMOD3 gene (OMIM ) on chromosome 3p14; and NEM11 (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS Is also known as actin myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.

ELLIS VAN CREVELD SYNDROME Is also known as mesodermic dysplasia|mesoectodermal dysplasia|chondroectodermal dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ELLIS VAN CREVELD SYNDROME

Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to the intralysosomal localization of stored cystine. Cystinosis differs from the other lysosomal diseases inasmuch as acid hydrolysis, the principal enzyme function of lysosomes, is not known to play a role in the metabolic disposition of cystine. The fact that plasma levels are well below saturation indicates that the defect is a cellular one. Within the cell, cystine is compartmentalized with acid phosphatase and is membrane-bound as demonstrated by electron microscopy. Ferritin accumulates in the same organelle which appears to be the lysosome.

CYSTINOSIS, NEPHROPATHIC; CTNS Is also known as cystinosin, defect of|lysosomal cystine transport protein, defect of

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Cognitive impairment
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about CYSTINOSIS, NEPHROPATHIC; CTNS

Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies. Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck. There is progressive focal bone destruction, including acroosteolysis and generalized osteoporosis. Additional and variable features include hearing loss, renal cysts, and cardiovascular anomalies (summary by Ramos et al., 1998; Simpson et al., 2011; Isidor et al., 2011).

HAJDU-CHENEY SYNDROME; HJCYS Is also known as acroosteolysis with osteoporosis and changes in skull and mandible|sfpks|cheney syndrome|arthrodentoosteodysplasia|serpentine fibula-polycystic kidney syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about HAJDU-CHENEY SYNDROME; HJCYS

High match COHEN SYNDROME

Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about COHEN SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Genu valgum

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Abnormality of the dentition Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Muscle weakness Cryptorchidism Downslanted palpebral fissures Micrognathia Pectus excavatum Long eyelashes Dental malocclusion Recurrent fractures Intrauterine growth retardation Microcephaly Dysphagia Delayed skeletal maturation Rickets Cognitive impairment High palate Abnormality of the skeletal system Anteverted nares

Rare Symptoms - Less than 30% cases

Myopathy Epicanthus Hyperreflexia Motor delay Hepatomegaly Optic atrophy Splenomegaly Frontal bossing Skeletal muscle atrophy Thick eyebrow Flexion contracture Abnormal facial shape Hirsutism Retrognathia Kyphoscoliosis Intellectual disability, mild Myopia Delayed speech and language development Joint hypermobility Carious teeth Renal insufficiency Preeclampsia Overbite Intestinal malrotation Generalized hypotonia Nephrolithiasis Cerebral calcification Low-set ears Hearing impairment Prominent nose Micromelia Ventricular septal defect Failure to thrive in infancy Generalized muscle weakness Decreased fetal movement Radial bowing Hypospadias Paralysis Feeding difficulties in infancy Conductive hearing impairment Abnormality of skin pigmentation Strabismus Congestive heart failure Skeletal dysplasia Cubitus valgus Delayed puberty Hypertelorism Aseptic necrosis Pes cavus Premature loss of teeth Respiratory distress Abnormality of pelvic girdle bone morphology Osteolysis Bone pain Hypophosphatemic rickets Glycosuria Polyuria Oral-pharyngeal dysphagia Cone-shaped epiphyses of phalanges 2 to 5 Abnormality of the alveolar ridges Male infertility Fever Acetabular spurs Hyponatremia Photophobia Metaphyseal widening Memory impairment Hypothyroidism Diabetes mellitus Proteinuria Retinopathy Confusion Stage 5 chronic kidney disease Hypopigmentation of the skin Dehydration Polydipsia Pigmentary retinopathy Hypogonadism Cerebral atrophy Hypohidrosis Chronic kidney disease Vomiting Blindness Progressive neurologic deterioration Abnormal oral mucosa morphology Short iliac bones Situs inversus totalis Emphysema Mild short stature Hypoplastic toenails Hand polydactyly Short long bone Renal hypoplasia/aplasia Abnormality of the fingernails Abnormality of dental enamel Abnormality of the nail Short ribs Abnormality of the hair Heterotopia Hydroureter Postaxial hand polydactyly Limb undergrowth Microdontia Dandy-Walker malformation Renal agenesis Nail dysplasia Ectodermal dysplasia Hypodontia Delayed eruption of teeth Postaxial polydactyly Short distal phalanx of finger Thin vermilion border Dextrocardia Hypoplastic left heart Congenital megaureter Hypoplastic iliac wing Capitate-hamate fusion Conical incisor Abnormal oral frenulum morphology Common atrium Abnormality of bone marrow cell morphology Neonatal short-limb short stature Exocrine pancreatic insufficiency Horizontal ribs Epispadias Abnormal hair quantity Abnormality of female internal genitalia Thoracic dysplasia Acute leukemia Thoracic hypoplasia Aplasia/Hypoplasia of the lungs Postaxial foot polydactyly Upper limb undergrowth Foot polydactyly Synostosis of carpal bones Abnormality of the ureter Natal tooth Abnormal heart valve morphology Disproportionate short stature Atrioventricular canal defect Agenesis of permanent teeth Short thorax Hypopigmentation of hair Coarse facial features Microscopic hematuria Nystagmus Neurological speech impairment Finger syndactyly Prominent nasal bridge Short philtrum Clinodactyly of the 5th finger Obesity Microphthalmia Kyphosis Muscular hypotonia Sensorineural hearing impairment Seizures Arachnodactyly Cheyne-Stokes respiration Elongated sella turcica Tall lumbar vertebral bodies Crowded carpal bones Serpentine fibula Bilateral vocal cord paralysis Foot acroosteolysis Basilar invagination Cervical instability Basilar impression Large sella turcica Joint hyperflexibility Iris coloboma Short nail Weak cry Cat cry Aplasia/Hypoplasia of the tongue Narrow palm Chorioretinal dystrophy Macrodontia Thick hair Aplasia/Hypoplasia of the earlobes Abnormal eyelid morphology Hypoplasia of the zygomatic bone Abnormal eyelash morphology Abnormality of the hip bone High, narrow palate Reduced number of teeth Sandal gap Low anterior hairline Preauricular skin tag Gingival overgrowth Abnormality of retinal pigmentation Open mouth Mitral valve prolapse Hypoplasia of the maxilla Neutropenia Tapered finger Absent frontal sinuses Platybasia Flushing Elevated intracellular cystine Narrow mouth Osteoporosis Inguinal hernia Patent ductus arteriosus Hernia Recurrent infections Long philtrum Hydrocephalus Short neck Pain Oral motor hypotonia Narrow chest Episodic metabolic acidosis Rachitic rosary Retinal pigment epithelial mottling Corneal crystals Renal Fanconi syndrome Generalized aminoaciduria Primary hypothyroidism Recurrent corneal erosions Decreased plasma carnitine Male hypogonadism Heat intolerance Osteopenia Umbilical hernia Biconcave vertebral bodies Narrow palpebral fissure Generalized osteoporosis Large earlobe Osteolytic defects of the phalanges of the hand Vertebral compression fractures Vocal cord paralysis Proportionate short stature Dislocated radial head Vertebral fusion Pathologic fracture Delayed cranial suture closure Metatarsus adductus Wormian bones Telecanthus Increased bone mineral density Abnormal vertebral morphology Abnormality of the face Bowing of the long bones Full cheeks Renal cyst Wide nose Synophrys Abnormal cardiac septum morphology Protruding ear Joint laxity Cleft upper lip Spastic diplegia Nail dystrophy Autistic behavior Long nose Broad hallux Overlapping toe Delayed gross motor development Narrow palate Broad thumb Convex nasal ridge Premature birth Highly arched eyebrow Postnatal growth retardation Pes valgus Autism Syndactyly Wide nasal bridge Bicarbonate-wasting renal tubular acidosis Periodic paralysis Abnormality of the renal tubule Osteopetrosis Osteomalacia Abnormality of dental morphology Hypokalemia Low hanging columella Mild myopia Nephrocalcinosis Neonatal hypotonia Limb muscle weakness Arthrogryposis multiplex congenita Dilated cardiomyopathy Cough Respiratory tract infection Hyperlordosis Apnea Facial palsy Hypertrophic cardiomyopathy Proximal muscle weakness Rigidity Posterior helix pit Polyhydramnios Respiratory failure Recurrent respiratory infections Hyporeflexia Areflexia Hypertonia Edema Cardiomyopathy Respiratory insufficiency Feeding difficulties Reduced bone mineral density Abnormality of epiphysis morphology Pulmonary hypoplasia Ankylosis Generalized arterial calcification Arterial calcification Vascular calcification Coronary artery stenosis Angioid streaks of the fundus Arteriosclerosis Otosclerosis Arterial stenosis Endocardial fibroelastosis Pericardial effusion Periarticular calcification Hypophosphatemia Glomerulosclerosis Growth abnormality Left ventricular hypertrophy Myocardial infarction Ventricular hypertrophy Cyanosis Papule Pneumonia Hypertension Coronary artery calcification Neoplasm Mandibular prognathia Abnormality of the humerus Thrombocytopenia Peripheral neuropathy Visual impairment Anemia Pelvic bone exostoses Synostosis of joints Abnormal pericardium morphology Chondrosarcoma Multiple exostoses Madelung deformity Abnormality of femur morphology Dilatation Abnormality of tibia morphology Abnormality of the upper limb Exostoses Hypoplasia of the ulna Hemiplegia/hemiparesis Elbow dislocation Cranial nerve paralysis Abnormality of the metaphysis Osteoarthritis Abnormal pyramidal sign Falls Waddling gait Pectus carinatum Spastic paraparesis Cerebellar vermis atrophy Scleroderma Ankle clonus Hammertoe Impaired vibratory sensation Emotional lability Abnormality of the hand Slurred speech Drooling Hoarse voice Upper limb muscle weakness Clonus Spastic gait Hallucinations Progressive muscle weakness Lower limb spasticity Choreoathetosis Psychosis Overgrowth Specific learning disability Gliosis Ankle contracture Dysuria Sleep disturbance Morphea Abnormality of the kidney Polydactyly Severe short stature Abnormal heart morphology Abnormality of cardiovascular system morphology Atrial septal defect Talipes equinovarus Cleft palate Hyperplasia of midface Hyperextensible hand joints Suicidal ideation Abnormality of the thumb Narrow jaw Panic attack Knee clonus Abnormal hand morphology Abnormality of brain morphology Abnormality of the nares Mood swings Upper limb spasticity Speech apraxia Spastic dysarthria Abnormal cerebellum morphology Short foot Frequent falls Myopathic facies Type 1 muscle fiber predominance Nemaline bodies Fetal akinesia sequence Facial diplegia EMG: neuropathic changes Hypoventilation Thin ribs Spinal rigidity Bulbar palsy Mildly elevated creatine phosphokinase Mask-like facies Slender build Myotonia Akinesia Congenital contracture EMG: myopathic abnormalities Infantile muscular hypotonia Respiratory insufficiency due to muscle weakness Knee flexion contracture Foot dorsiflexor weakness Narrow face Joint contracture of the hand Breech presentation Neck flexor weakness Distal amyotrophy Constipation Dysmetria Lower limb muscle weakness Paraplegia Abnormality of the foot Spastic paraplegia Camptodactyly Anxiety Hydronephrosis Difficulty walking Gait ataxia Babinski sign Diaphragmatic paralysis Clinodactyly Midface retrusion Behavioral abnormality Cerebellar atrophy Brachydactyly Dysarthria Spasticity Late-onset distal muscle weakness Percussion myotonia Fetal distress Slender toe


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