Failure to thrive, and Finger syndactyly

Diseases related with Failure to thrive and Finger syndactyly

In the following list you will find some of the most common rare diseases related to Failure to thrive and Finger syndactyly 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

McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.

MCKUSICK-KAUFMAN SYNDROME Is also known as kaufman-mckusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

Other less relevant matches:

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

Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4 ), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).

WAARDENBURG SYNDROME, TYPE 3; WS3 Is also known as klein-waardenburg syndrome|waardenburg syndrome, type iii|waardenburg syndrome with upper limb anomalies

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 3; WS3

Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME Is also known as autosomal recessive non-lethal multiple pterygium syndrome|escobar variant multiple pterygium syndrome|evmps|escobar syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME

Medium match BLOOM SYNDROME

Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Medium match FILIPPI SYNDROME

Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.

FILIPPI SYNDROME Is also known as scott craniodigital syndrome with mental retardation|syndactyly, type i, with microcephaly and mental retardation|type 1 syndactyly-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FILIPPI SYNDROME

Medium 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 Finger syndactyly

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Syndactyly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Downslanted palpebral fissures Brachydactyly Cryptorchidism Muscular hypotonia Telecanthus Intrauterine growth retardation Hypertelorism Underdeveloped nasal alae Cleft palate Ventricular septal defect Prominent nasal bridge Clinodactyly Sensorineural hearing impairment Abnormal facial shape Clinodactyly of the 5th finger Brachycephaly Hearing impairment Myopia Epicanthus Strabismus Atrial septal defect Optic atrophy Frontal bossing Abnormality of the dentition Growth delay Wide nasal bridge Cutaneous finger syndactyly Specific learning disability Toe syndactyly Cutaneous syndactyly Seizures Delayed skeletal maturation High forehead Short philtrum

Rare Symptoms - Less than 30% cases

Low-set ears Telangiectasia of the skin Broad forehead Obesity Cataract Camptodactyly of finger Delayed puberty Hand polydactyly Long eyelashes Short nose Anemia Long philtrum Hypertrichosis Generalized hypotonia Hypopigmented skin patches Cutaneous syndactyly of toes Reduced number of teeth Narrow nose Narrow naris Neurological speech impairment Fine hair Thick eyebrow Microphthalmia Abnormality of the skeletal system Intellectual disability, severe Hypoplasia of the zygomatic bone Hypoplasia of the maxilla Nystagmus Abnormality of skin pigmentation Paraplegia Ptosis Thin vermilion border Arthrogryposis multiplex congenita Single transverse palmar crease Prominent nose Postnatal growth retardation Hypertension Cardiomyopathy Patent ductus arteriosus Abnormal eyelid morphology Limitation of joint mobility Decreased body weight Finger clinodactyly Joint hyperflexibility Pectus excavatum High palate Aganglionic megacolon Scoliosis Severe short stature Polydactyly Dolichocephaly Neoplasm Abnormality of cardiovascular system morphology Facial asymmetry Deeply set eye Synophrys Recurrent respiratory infections Rib fusion High pitched voice Abnormal aortic valve morphology Pulmonary fibrosis Myeloid leukemia Acute myeloid leukemia Abnormality of the skin IgA deficiency Hodgkin lymphoma IgG deficiency Decreased antibody level in blood Infertility Abnormality of the tongue Aplasia/Hypoplasia of the abdominal wall musculature Acute leukemia Symphalangism affecting the phalanges of the hand Hyperhidrosis Ichthyosis Hearing abnormality Chromosome breakage Aplasia/Hypoplasia of the skin Diabetes mellitus Lymphoma Abnormality of the sternum Squamous cell carcinoma Sacral dimple Pneumonia Morphological abnormality of the gastrointestinal tract Recurrent infections Cutaneous photosensitivity Immunodeficiency Skin rash Leukemia Malar flattening Intellectual disability, mild Diarrhea Erythema Type II diabetes mellitus Absence of labia majora Abnormality of skeletal morphology Multiple pterygia Axillary pterygium Otitis media Antecubital pterygium Abnormality of the face Bronchiectasis Popliteal pterygium Telangiectasia Cafe-au-lait spot Sinusitis Protruding ear Azoospermia Narrow face Thin upper lip vermilion Hypoplastic pelvis Enlarged epiphyses High, narrow palate Iris coloboma Arachnodactyly Genu valgum Feeding difficulties in infancy Kyphosis 2-4 toe syndactyly Frontal hirsutism Clinodactyly of the 5th toe Neutropenia Aplastic/hypoplastic toenail Anteverted ears Congenital microcephaly Broad columella Echolalia High anterior hairline Low hanging columella Limb hypertonia Tapered finger Mitral valve prolapse Abnormality of digit Weak cry Cat cry Aplasia/Hypoplasia of the tongue Narrow palm Chorioretinal dystrophy Macrodontia Thick hair Aplasia/Hypoplasia of the earlobes Abnormal eyelash morphology Abnormality of the hip bone Decreased fetal movement Cubitus valgus Failure to thrive in infancy Sandal gap Low anterior hairline Preauricular skin tag Gingival overgrowth Abnormality of retinal pigmentation Open mouth Limb dystonia Narrow nasal bridge Chronic lung disease Agenesis of maxillary lateral incisor Proptosis Prominent forehead Dystonia Hypertonia Cerebellar atrophy Visual impairment Spasticity Facial telangiectasia in butterfly midface distribution Neoplasm of the gastrointestinal tract Muscular hypotonia of the trunk Spotty hyperpigmentation Spotty hypopigmentation Female infertility Decreased fertility in females Abnormality of chromosome stability IgM deficiency Abnormality of the nose Chronic obstructive pulmonary disease Neonatal respiratory distress Intellectual disability, moderate Aphasia Postnatal microcephaly Dysphasia Supernumerary nipple Short middle phalanx of finger Mutism Widely spaced teeth Short chin Generalized hirsutism Bilateral single transverse palmar creases Small nail Sparse hair Ambiguous genitalia Microdontia Hypodontia Wide nose Hirsutism Bulbous nose Smooth philtrum Small for gestational age Vertebral segmentation defect Broad nasal tip Aortic aneurysm Nevus flammeus Delayed speech and language development Asymmetric growth Abnormality of nervous system morphology Visceral angiomatosis Cerebral ischemia Arteriovenous malformation Foot polydactyly Small hand Hypermelanotic macule Cutis marmorata Aplasia/Hypoplasia of the cerebellum Arnold-Chiari malformation Full cheeks Polymicrogyria Wide mouth Narrow mouth Short foot Hydrocephalus Abnormality of dental enamel Spinal cord compression Basal ganglia calcification Long nose Hyperostosis Abnormality of dental morphology Sparse eyelashes Dental crowding Delayed eruption of teeth Large fontanelles Sparse scalp hair Short palpebral fissure Overgrowth Dental malocclusion Triangular face Microcornea Arrhythmia Ventriculomegaly Large earlobe Aortic regurgitation Intellectual disability, borderline Arterial stenosis Gastritis Perimembranous ventricular septal defect Increased susceptibility to fractures Bicuspid aortic valve Recurrent fractures Renal artery stenosis Short palm Pulmonic stenosis Abdominal pain Abnormal heart morphology Dilatation Renal insufficiency Pain Coronary artery stenosis Renovascular hypertension Macrocephaly Tarsal synostosis Depressed nasal bridge Glandular hypospadias Hydrometrocolpos Urethral stricture Urogenital sinus anomaly Ectopic anus Postaxial foot polydactyly Hypoplastic left heart Carotid artery stenosis Abnormality of the metacarpal bones Renal hypoplasia/aplasia Multicystic kidney dysplasia Postaxial hand polydactyly Tetralogy of Fallot Anal atresia Hydronephrosis Mild global developmental delay Hypoplasia of teeth Pterygium Depressed nasal tip Multiple exostoses Parietal foramina Congenital ptosis Craniofacial dysostosis Sparse lateral eyebrow Decreased skull ossification Exostoses Cognitive impairment Turricephaly Aniridia Self-injurious behavior Nephroblastoma Sparse eyebrow Wormian bones Abnormality of the genital system Cutaneous syndactyly between fingers 2 and 5 Skeletal muscle atrophy Autistic behavior Pulmonary hypoplasia Scrotal hypoplasia Spina bifida occulta Pointed chin Low posterior hairline Hypoplasia of penis Webbed neck Nevus Long face Gait disturbance Oral cleft Abnormality of movement Abnormality of the foot Conductive hearing impairment Umbilical hernia Hypogonadism Inguinal hernia Downturned corners of mouth Hypothyroidism Cranial hyperostosis Mandibular prognathia Abdominal distention Hypopigmentation of the skin Thick vermilion border Spastic paraplegia Blepharophimosis Cleft lip Vomiting Joint contracture of the hand Flexion contracture 2-4 toe cutaneous syndactyly 4-5 finger syndactyly Fifth finger distal phalanx clinodactyly Macrodontia of permanent maxillary central incisor Persistent pupillary membrane Broad long bones Anorexia Scapular winging Autism Atelectasis Micropenis Behavioral abnormality Poliosis Dacryocystitis Partial albinism Bronchomalacia White forelock White hair Congenital sensorineural hearing impairment Heterochromia iridis Blue irides Carpal synostosis Vitiligo Sprengel anomaly Premature graying of hair Albinism Slender toe


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