Failure to thrive, and Arachnodactyly

Diseases related with Failure to thrive and Arachnodactyly

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

Top matches:

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

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYCR2-RELATED MICROCEPHALY-PROGRESSIVE LEUKOENCEPHALOPATHY

Other less relevant matches:

Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by Srivastava et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about BAINBRIDGE-ROPERS SYNDROME; BRPS

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

Classic homocystinuria is an autosomal recessive metabolic disorder of sulfur metabolism. The clinical features of untreated homocystinuria due to CBS deficiency usually manifest in the first or second decade of life and include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome (MFS ), and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. There are 2 main phenotypes of the classic disorder: a milder pyridoxine (vitamin B6)-responsive form, and a more severe pyridoxine-nonresponsive form. Pyridoxine is a cofactor for the CBS enzyme, and can aid in the conversion of homocysteine to cysteine (summary by Reish et al., 1995 and Testai and Gorelick, 2010).Some patients have been reported to have a milder form of homocystinuria, which is characterized by increased plasma homocysteine and increased risk for thrombotic events in young adulthood, but without the other skeletal, ocular, or nervous system manifestations observed in classic homocystinuria (Kelly et al., 2003).

HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY Is also known as cystathionine beta-synthase deficiency|cbs deficiency|homocystinuria with or without response to pyridoxine

Related symptoms:

  • Intellectual disability
  • Seizures
  • Failure to thrive
  • High palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY

IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by Santiago-Sim et al., 2017).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET SEIZURES-DISTAL LIMB ANOMALIES-FACIAL DYSMORPHISM-GLOBAL DEVELOPMENTAL DELAY SYNDROME

Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.

OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE Is also known as mendenhall syndrome|rabson-mendenhall syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE

High match ALG3-CDG

ALG3-CDG is a form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC, see this term), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). ALG3-CDG is caused by loss of function mutations of the gene ALG3 (3q27.3).

ALG3-CDG Is also known as cdgid|cdg id|cdgs, type iv, formerly|cdgs4, formerly|carbohydrate-deficient glycoprotein syndrome, type iv, formerly|congenital disorder of glycosylation type id|congenital disorder of glycosylation type 1d|cdg syndrome type id|cdg-id|mannosyltransferase

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALG3-CDG

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 3; GAMOS3

Top 5 symptoms//phenotypes associated to Failure to thrive and Arachnodactyly

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

High palate

Uncommon Symptoms - Between 30% and 50% cases

Downslanted palpebral fissures

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Hypoplasia of the corpus callosum Pectus excavatum Low-set ears Myopia Intrauterine growth retardation Absent speech Strabismus Epicanthus Abnormality of the skeletal system Tall stature Prominent nasal bridge Coloboma Wide nasal bridge Feeding difficulties Inability to walk Severe global developmental delay Bulbous nose Hearing impairment Flexion contracture Nystagmus Abnormality of the pinna Upslanted palpebral fissure Anteverted nares Hypertelorism Scoliosis Short nose Dental crowding Short stature Retrognathia

Rare Symptoms - Less than 30% cases

Talipes equinovarus Thin vermilion border Smooth philtrum Pectus carinatum Cryptorchidism Cerebellar atrophy Visual impairment Ventriculomegaly Brachycephaly Macrotia Muscular hypotonia of the trunk Long face Flat occiput Optic atrophy Leukodystrophy Narrow forehead Postnatal microcephaly Ectopia lentis Lipodystrophy Oligohydramnios Mitral valve prolapse High, narrow palate Arthrogryposis multiplex congenita Prominent forehead Pes planus Wide mouth Micrognathia Cerebral atrophy Dilatation Disproportionate tall stature Highly arched eyebrow Edema Long philtrum Coarctation of aorta Abnormal heart morphology Short chin Cutis marmorata Long nose Narrow nose Short neck Behavioral abnormality Autistic behavior Short philtrum Small for gestational age Long fingers Microphthalmia Broad forehead Hyperreflexia Abnormal cardiac septum morphology Camptodactyly Spasticity Hypertonia Hand clenching Deeply set eye Clitoral hypertrophy Hyperglycemia Precocious puberty Absent eyebrow Hyperinsulinemia Ovarian neoplasm Protuberant abdomen Insulin-resistant diabetes mellitus Constipation Overlapping toe Ketoacidosis Long foot Narrow face Abnormality of the optic nerve Thick nail Fasting hypoglycemia Long penis Advanced eruption of teeth Thin eyebrow Choroideremia Acanthosis nigricans Hypertrichosis Preauricular skin tag Neoplasm Abnormality of the dentition Respiratory failure Mandibular prognathia Dyspnea Coarse facial features Hypoglycemia Telecanthus Blepharophimosis Dry skin Joint laxity Hirsutism Insulin resistance Microcornea Abdominal distention Sepsis Diabetic ketoacidosis Long palpebral fissure Specific learning disability Microdontia Epidermal acanthosis Short palpebral fissure Respiratory distress Abnormal lip morphology Blindness Chorioretinal dystrophy Convex nasal ridge Clinodactyly of the 5th toe Food intolerance Delayed speech and language development Midface retrusion Cerebellar hypoplasia Narrow mouth Proteinuria Hip dislocation Stage 5 chronic kidney disease Ichthyosis Sloping forehead Portal fibrosis Nephrotic syndrome Pachygyria Hypocalcemia Lissencephaly Hypoalbuminemia Glomerulosclerosis Focal segmental glomerulosclerosis Hypoplastic left heart Cortical gyral simplification Corpus callosum atrophy Diffuse mesangial sclerosis Type I transferrin isoform profile Decreased light- and dark-adapted electroretinogram amplitude Muscle flaccidity Clinodactyly Postprandial hyperglycemia Abnormality of upper lip Onychauxis Muscular hypotonia Depressed nasal bridge Long eyelashes Vomiting Atrial septal defect Diarrhea Ventricular septal defect Abnormality of the eye Villous atrophy Iris coloboma Bifid uvula Nail dysplasia Hypsarrhythmia Small nail Cerebral visual impairment Joint contracture of the hand Adducted thumb Abnormality of vision Hypoplastic nipples Severe vision loss Sacral dimple Carious teeth Broad thumb Narrow maxilla Cataract Trigonocephaly Hypoplasia of the brainstem Cleft palate Delayed ability to walk Severe postnatal growth retardation Ulnar deviation of the hand Hypertension Macrocephaly Hydrocephalus Proptosis Broad nasal tip Gastroesophageal reflux Soft skin Craniosynostosis Bruising susceptibility Premature birth High myopia Increased body weight Cutis laxa Relative macrocephaly Finger clinodactyly Open mouth Everted lower lip vermilion Aortic aneurysm Brain atrophy Babinski sign Skeletal muscle atrophy Cerebral cortical atrophy Bullet-shaped distal phalanx of the hallux Generalized tonic-clonic seizures Abnormality iris morphology Abnormal oral frenulum morphology Small face Thick vermilion border Triangular face Central apnea Postnatal growth retardation Progressive microcephaly Interphalangeal joint contracture of finger Mutism CNS hypomyelination Overfolded helix Global brain atrophy Long toe Toe syndactyly Camptodactyly of finger Low-set, posteriorly rotated ears Neonatal hypotonia Pointed chin Reduced subcutaneous adipose tissue Spastic tetraplegia Personality disorder Obsessive-compulsive behavior Thromboembolism Pulmonary embolism Transient ischemic attack Peripheral arterial stenosis Generalized osteoporosis Precocious atherosclerosis Cerebral edema Homocystinuria Biconcave vertebral bodies Hypermethioninemia Schizophrenia Thin skin Motor delay Intestinal malrotation Anal atresia Intellectual disability, severe Malar flattening Autism Thin upper lip vermilion Protruding ear Tapered finger Tetraplegia Brittle hair Atherosclerosis Aortic root aneurysm Depressivity Scaphocephaly Severe intrauterine growth retardation Progeroid facial appearance Entropion Hyperextensibility of the finger joints Pes valgus Dural ectasia Narrow palm Prominent scalp veins Abnormality of the genital system Inguinal hernia Pancreatitis Osteoporosis Glaucoma Kyphoscoliosis Aggressive behavior Stroke Hepatic steatosis Retinal detachment Hypopigmentation of the skin Limitation of joint mobility Myocardial infarction Aspiration Hypertensive crisis


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