Failure to thrive, and Clinodactyly

Diseases related with Failure to thrive and Clinodactyly

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

Top matches:

Medium match GRANGE SYNDROME

Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.

GRANGE SYNDROME Is also known as arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly|grange occlusive arterial syndrome|progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GRANGE SYNDROME

The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21.

PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY Is also known as natural killer cell deficiency, familial isolated|natural killer cell and glucocorticoid deficiency with dna repair defect|nkgcd|primary immunodeficiency due to mcm4 deficiency|nkcd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY

Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.

BOWEN-CONRADI SYNDROME Is also known as bowen syndrome, hutterite type|bowen hutterite syndrome, formerly

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BOWEN-CONRADI SYNDROME

Other less relevant matches:

Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.

PONTOCEREBELLAR HYPOPLASIA TYPE 6 Is also known as fatal infantile encephalopathy with mitochondrial respiratory chain defects|pch6|encephalopathy, fatal infantile, with mitochondrial respiratory chain defects

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 6

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

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 5; MGORS5

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 17P13.3 MICRODUPLICATION SYNDROME

Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY Is also known as igf1 deficiency|primary insulin-like growth factor deficiency|growth retardation with sensorineural deafness and mental retardation|growth delay-deafness- intellectual disability syndrome|igf-1 deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY

OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Intrauterine growth retardation Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Delayed skeletal maturation Micrognathia Low-set ears Short stature Generalized hypotonia Short chin Intellectual disability Finger clinodactyly Camptodactyly Clinodactyly of the 5th finger Frontal bossing Small for gestational age Deeply set eye Motor delay

Rare Symptoms - Less than 30% cases

Hyperactivity Hypertelorism Long nose Seizures Narrow nose Cryptorchidism Ventriculomegaly Long philtrum Micropenis Short nose Hypoplasia of the maxilla Triangular face Dental crowding Mild global developmental delay Narrow mouth Delayed eruption of teeth Severe intrauterine growth retardation Severe postnatal growth retardation Downslanted palpebral fissures Behavioral abnormality Myopia Overgrowth Postnatal growth retardation Attention deficit hyperactivity disorder Cerebellar atrophy Prominent forehead Feeding difficulties Pointed chin Hypoglycemia Ventricular septal defect Decreased body weight Abnormal heart morphology Syndactyly Hepatomegaly Splenomegaly Respiratory failure Macrodontia of permanent maxillary central incisor Hernia Muscular hypotonia High palate Wide nasal bridge Hypoplasia of teeth Short neck Hypoplasia of the corpus callosum Large earlobe Midface retrusion Spinal cord compression Birth length less than 3rd percentile Inguinal hernia Basal ganglia calcification Hyperostosis Autism Cutis marmorata Abnormality of dental morphology High forehead Sparse eyelashes Irregular femoral epiphysis Toe clinodactyly Cleft palate Cranial hyperostosis Persistent pupillary membrane Narrow maxilla Soft skin Broad long bones Gastroesophageal reflux Microtia Thick vermilion border Fifth finger distal phalanx clinodactyly Microdontia Small earlobe Cutaneous syndactyly of toes Elbow dislocation Slender long bone Prominent metopic ridge 4-5 finger syndactyly Abnormality of dental enamel Irregular epiphyses Hypoplasia of the capital femoral epiphysis Patellar aplasia Hypoplasia of penis Wide nose Toe syndactyly Insulin resistance Cafe-au-lait spot Low anterior hairline Radial deviation of finger Congenital sensorineural hearing impairment Truncal obesity Abnormality of the mouth Short attention span Concave nasal ridge Telecanthus Small hand Neonatal hyperbilirubinemia Brachycephaly Microphthalmia Prelingual sensorineural hearing impairment Small placenta Congenital bilateral ptosis Cataract Delayed speech and language development Epicanthus Abnormality of the dentition Thin vermilion border Bilateral sensorineural hearing impairment Large fontanelles Intellectual disability, mild Tall stature Congenital hip dislocation Lissencephaly Large for gestational age Disproportionate tall stature Hearing impairment Sensorineural hearing impairment Ptosis Sparse scalp hair Abnormality of metabolism/homeostasis Short foot Severe short stature Osteoporosis Hypogonadism Osteopenia Fine hair Single transverse palmar crease Short palpebral fissure Underdeveloped nasal alae Dental malocclusion Microcornea Low posterior hairline Upper limb spasticity Abnormality of the genital system Severe global developmental delay Recurrent respiratory infections Lymphadenopathy Adrenal insufficiency Chromosome breakage Recurrent viral infections Lymphoproliferative disorder Stomatitis Abnormality of cardiovascular system morphology Feeding difficulties in infancy Joint stiffness Camptodactyly of finger Abnormality of the foot Immunodeficiency Oral cleft Prominent nose Sloping forehead Interphalangeal joint contracture of finger Rocker bottom foot Abnormal joint morphology Abnormal lung lobation Macrocephaly Diarrhea Posteriorly rotated ears Diabetes mellitus Recurrent infections Anemia Hypothyroidism Specific learning disability Pain Hypertension Brachydactyly Cardiomyopathy Renal insufficiency Dilatation Patent ductus arteriosus Abdominal pain Pulmonic stenosis Short palm Recurrent fractures Aortic regurgitation Neoplasm Cutaneous syndactyly Bicuspid aortic valve Increased susceptibility to fractures Cutaneous finger syndactyly Perimembranous ventricular septal defect Gastritis Arterial stenosis Intellectual disability, borderline Coronary artery stenosis Renal artery stenosis Renovascular hypertension Carotid artery stenosis Proptosis Autoimmunity Thin skin Scoliosis Progressive microcephaly Narrow palate Poor head control Adducted thumb Poor suck Global brain atrophy Atrophy/Degeneration affecting the brainstem Increased CSF lactate Upper airway obstruction Infantile encephalopathy Small posterior fossa Flexion contracture Cerebellar vermis hypoplasia Abnormality of the skeletal system Atrial septal defect Pectus excavatum Constipation Joint laxity Abnormal cardiac septum morphology Broad forehead Carious teeth Anal atresia Arachnodactyly Intestinal malrotation Coarctation of aorta Lower limb spasticity Narrow forehead Dolichocephaly Hyperreflexia Malabsorption Asthma Hepatitis Abnormal lung morphology Chronic diarrhea Type I diabetes mellitus Abnormal intestine morphology Relative macrocephaly Prominent occiput Chronic lung disease Interstitial pneumonitis Optic atrophy Generalized-onset seizure Cerebral atrophy Absent speech Encephalopathy Visual loss Cerebellar hypoplasia Apnea Prominent nasal bridge Lethargy Generalized myoclonic seizures Full cheeks Increased serum lactate Progressive visual loss 2-4 toe cutaneous syndactyly


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