Failure to thrive, and Pectus excavatum

Diseases related with Failure to thrive and Pectus excavatum

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

Top matches:

Cardiofaciocutaneous syndrome (CFC) is a complex developmental disorder involving characteristic craniofacial features, cardiac anomalies, hair and skin abnormalities, postnatal growth deficiency, hypotonia, and developmental delay. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures (Schulz et al., 2008).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3

Congenital heart defects and skeletal malformations syndrome (CHDSKM) is characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Skeletal defects are variable and include pectus excavatum, scoliosis, and finger contractures, and some patient exhibit joint laxity. Failure to thrive is observed during infancy and early childhood (Wang et al., 2017).

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Abnormal facial shape
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM

EMARDD is a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course (summary by Logan et al., 2011 and Boyden et al., 2012).

EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME Is also known as emardd

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME

Other less relevant matches:

Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.

COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY Is also known as cid due to orai1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY

Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI (summary by Barnes et al., 2006).

OSTEOGENESIS IMPERFECTA, TYPE VII; OI7 Is also known as oi2b, formerly|osteogenesis imperfecta, type iib, formerly|oi, type vii

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Failure to thrive
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE VII; OI7

Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.

PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Is also known as diaphorase deficiency|2-oxoglutarate complex deficiency|pyruvate dehydrogenase protein x component deficiency|dihydrolipoyl dehydrogenase deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|pyruvate dehydrogenase complex component e3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

Congenital fiber type disproportion myopathy (CFTDM) is a rare type of myopathy characterized by hypotonia and mild to severe generalized muscle weakness present at birth or within the first year of life.

CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY Is also known as cftdm

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY

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

Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.

PRUNE BELLY SYNDROME Is also known as abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism|abdominal muscle deficiency syndrome|eagle-barret syndrome|eagle-barrett syndrome|triad syndrome|egbrs|obrinsky syndrome

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Cryptorchidism
  • Cognitive impairment
  • Ventricular septal defect


SOURCES: OMIM ORPHANET MENDELIAN

More info about PRUNE BELLY SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Pectus excavatum

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Talipes equinovarus Muscular hypotonia High palate Respiratory distress Abnormal facial shape Neonatal hypotonia Muscle weakness Generalized muscle weakness Decreased fetal movement Joint laxity Recurrent respiratory infections Flexion contracture Dilatation Feeding difficulties Growth delay Respiratory insufficiency Respiratory insufficiency due to muscle weakness Abnormal heart morphology

Rare Symptoms - Less than 30% cases

Respiratory failure Paralysis Respiratory tract infection Facial palsy Gastroesophageal reflux Areflexia Hyporeflexia Short stature Proptosis Hydronephrosis Craniosynostosis Dysphagia Macrocephaly Congenital hip dislocation Waddling gait Polyhydramnios Pulmonary hypoplasia Knee flexion contracture EMG: myopathic abnormalities Dilated cardiomyopathy Hyperlordosis Retrognathia Diaphragmatic paralysis Oligohydramnios Breech presentation Mildly elevated creatine phosphokinase Difficulty running Bulbar palsy Arthrogryposis multiplex congenita Cryptorchidism Relative macrocephaly Encephalopathy Heat intolerance Hypertrophic cardiomyopathy Constipation Atrial septal defect Anal atresia Arachnodactyly Intestinal malrotation Ventricular septal defect Abnormality of the skeletal system Intrauterine growth retardation Hypertonia Cutis laxa Cardiomyopathy Hypoplasia of the corpus callosum Narrow nose Intellectual disability Lactic acidosis Hemolytic anemia Tented upper lip vermilion Metabolic acidosis Poor suck Calf muscle hypertrophy Reduced tendon reflexes Subependymal cysts Unsteady gait Weak cry Hip contracture Ankle contracture Scapular winging Flexion contracture of finger Abnormality of eye movement Type 1 muscle fiber atrophy Fatigable weakness of bulbar muscles Spastic paraplegia Hyperreflexia Edema Severe global developmental delay Congestive heart failure Reduced vital capacity Ophthalmoplegia Coma Projectile vomiting Periventricular cysts Rigidity Decreased activity of the pyruvate dehydrogenase complex Hyperalaninemia Increased serum pyruvate Poor fine motor coordination Severe lactic acidosis Corpus callosum atrophy Poor coordination Lipoma Partial agenesis of the corpus callosum Poor gross motor coordination Elbow flexion contracture Micrognathia Spastic diplegia Ptosis Trigonocephaly Broad-based gait Progressive neurologic deterioration Tetraparesis Kyphoscoliosis Long face Spastic tetraplegia Increased serum lactate Pes cavus Hypoventilation Proximal muscle weakness Multicystic kidney dysplasia Abnormality of the ureter Decreased fertility Vertebral segmentation defect Hydroureter Bilateral cryptorchidism Abnormality of the urinary system Hemivertebrae Aplasia/Hypoplasia of the lungs Telangiectasia Recurrent urinary tract infections Epistaxis Abnormality of the ribs Tetralogy of Fallot Decreased testicular size Xerostomia 11 pairs of ribs Vesicoureteral reflux Abnormality of the bladder Aplasia of the abdominal wall musculature Dilatation of the bladder Congenital posterior urethral valve Fetal ascites Urethral obstruction Megacystis Prune belly Abnormality of the uterus Abdominal wall defect Cervical ribs Urethral stenosis Urogenital sinus anomaly Intestinal atresia Miosis Volvulus Abnormality of the skin Abdominal distention Apnea Narrow face Mask-like facies Myotonia Akinesia Congenital contracture Infantile muscular hypotonia Foot dorsiflexor weakness Joint contracture of the hand Spinal rigidity Frequent falls Falls Genu valgum Limb muscle weakness Cough Feeding difficulties in infancy Myopathic facies Thin ribs Ascites Percussion myotonia Hip dislocation Pectus carinatum Patent ductus arteriosus Renal insufficiency Cognitive impairment Late-onset distal muscle weakness Fetal distress Thin upper lip vermilion Neck flexor weakness Slender build Type 1 muscle fiber predominance Nemaline bodies Fetal akinesia sequence Facial diplegia EMG: neuropathic changes Muscular hypotonia of the trunk Tall stature Acidosis Lymphadenopathy Restrictive ventilatory defect Long fingers Increased connective tissue Respiratory arrest Increased endomysial connective tissue Spasticity Fever Diarrhea Immunodeficiency Recurrent infections Thrombocytopenia Pneumonia Difficulty walking Dry skin Neutropenia Poor head control Sepsis Ectodermal dysplasia Chronic diarrhea Hypocalcemia Encephalitis Gowers sign Anhidrosis Episodic fever Amelogenesis imperfecta Progressive encephalopathy Stomatitis Recurrent aphthous stomatitis Hypoplasia of the thymus Pyelonephritis Nasal speech Severe muscular hypotonia Hearing impairment Abnormal cardiac septum morphology Nystagmus Hyperhidrosis Hyperkeratosis Postnatal growth retardation Wide mouth Pulmonic stenosis Nevus Reduced bone mineral density Curly hair Hyperkeratosis pilaris Abnormality of the palpebral fissures Short nose Deeply set eye Camptodactyly Broad forehead Recurrent pneumonia Cutis marmorata Muscular dystrophy Camptodactyly of finger Cleft palate Narrow maxilla Soft skin Long nose Short chin Carious teeth Finger clinodactyly Pointed chin Dental crowding Abnormality of the genital system Thin skin Coarctation of aorta Protracted diarrhea Long philtrum Agenesis of corpus callosum Hyperextensibility of the finger joints High, narrow palate Premature birth Mitral valve prolapse High myopia Increased body weight Lipodystrophy Ectopia lentis Aortic aneurysm Reduced subcutaneous adipose tissue Aortic root aneurysm Scaphocephaly Severe intrauterine growth retardation Progeroid facial appearance Entropion Pes valgus Prominent nasal bridge Dural ectasia Narrow palm Prominent scalp veins Microcephaly Ataxia Hypertelorism Anemia Epicanthus Dysarthria Optic atrophy Ventriculomegaly Vomiting Dystonia Cerebral atrophy Bruising susceptibility Pes planus Osteopenia Thoracolumbar scoliosis Narrow chest Micromelia Recurrent fractures Round face Blue sclerae Rhizomelia Wide anterior fontanel Wormian bones Coxa vara Delayed gross motor development Increased susceptibility to fractures Bowing of the legs Delayed cranial suture closure Shallow orbits Vertebral compression fractures Prominent forehead Hypoplastic pulmonary veins Hydrocephalus Downslanted palpebral fissures Myopia Hypertension Externally rotated/abducted legs Crumpled long bones Multiple rib fractures Dentinogenesis imperfecta Absent pulmonary artery Decreased calvarial ossification Protrusio acetabuli Multiple prenatal fractures Wide cranial sutures Bronchiolitis Aplasia of the musculature


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