Failure to thrive, and Syndactyly

Diseases related with Failure to thrive and Syndactyly

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


Top matches:

Low 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

Low match SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8 Is also known as srps6|short rib-polydactyly syndrome, type vi

Related symptoms:

  • Short stature
  • Failure to thrive
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8

Low match MCKUSICK-KAUFMAN 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

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Other less relevant matches:

Low match JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE


Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.

JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE Is also known as epidermolysis bullosa letalis|junctional epidermolysis bullosa, herlitz type|junctional epidermolysis bullosa, herlitz-pearson type|jeb-herlitz type|jeb-h|epidermolysis bullosa junctionalis, herlitz type|epidermolysis bullosa, junctional, herlitz-pearson

Related symptoms:

  • Failure to thrive
  • Anemia
  • Feeding difficulties
  • Respiratory insufficiency
  • Syndactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE

Low match 2Q24 MICRODELETION SYNDROME


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

Low match SQUALENE SYNTHASE DEFICIENCY; SQSD


Squalene synthase deficiency is an autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, and facial dysmorphisms, as well as low total and LDL-cholesterol and abnormal urine organic acids (Coman et al., 2018). Squalene synthase deficiency has been reported in 3 patients from 2 families.

SQUALENE SYNTHASE DEFICIENCY; SQSD Is also known as neurodevelopmental disorder with low cholesterol and abnormal urine organic acids

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about SQUALENE SYNTHASE DEFICIENCY; SQSD

Low match MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA 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

Low match OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE


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

Low match RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY


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

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Toe syndactyly Cataract Seizures Brachydactyly Depressed nasal bridge Retrognathia Cleft palate High palate Myopia Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases


Feeding difficulties Delayed skeletal maturation Hypospadias Dental malocclusion Finger syndactyly Narrow mouth Delayed speech and language development Microcephaly Carious teeth Autism Intrauterine growth retardation Epicanthus Long nose Microphthalmia Low-set, posteriorly rotated ears Autistic behavior Deeply set eye Hypertelorism Frontal bossing Growth delay Polymicrogyria Respiratory insufficiency Bicuspid aortic valve Abnormal facial shape Patent ductus arteriosus Clinodactyly Macrocephaly Arteriovenous malformation Hypermelanotic macule Telangiectasia of the skin Narrow palate Long eyelashes Broad thumb Convex nasal ridge Foot polydactyly Nevus flammeus Visceral angiomatosis Cerebral ischemia Cutis marmorata Abnormality of nervous system morphology Asymmetric growth Prominent nose Motor delay Intestinal malrotation Premature birth Micropenis Gait ataxia Astigmatism Delayed gross motor development Aplasia/Hypoplasia of the cerebellum Overlapping toe Hydrocephalus Bilateral cryptorchidism Profound global developmental delay Neoplasm Muscular hypotonia Mild myopia Optic atrophy Pes valgus Overbite Preeclampsia Ventriculomegaly Abnormality of cardiovascular system morphology Broad hallux Arrhythmia Low hanging columella High forehead Wide mouth Facial asymmetry Joint hyperflexibility Full cheeks Arnold-Chiari malformation Hand polydactyly Rhizomelia Hypotelorism Coxa valga Macrodontia of permanent maxillary central incisor Sparse eyelashes Fine hair Sparse scalp hair Cognitive impairment Large fontanelles Dental crowding Scoliosis 2-4 toe cutaneous syndactyly 4-5 finger syndactyly Fifth finger distal phalanx clinodactyly Abnormality of dental enamel Abnormality of dental morphology Overgrowth Hyperostosis Basal ganglia calcification Narrow nose Spinal cord compression Mild global developmental delay Large earlobe Hypoplasia of teeth Cutaneous syndactyly of toes Cranial hyperostosis Broad long bones Persistent pupillary membrane Short palpebral fissure Underdeveloped nasal alae Accelerated skeletal maturation Abnormality of the dentition Scrotal hypoplasia Metaphyseal widening 2-3 toe syndactyly Highly arched eyebrow Scaphocephaly Obstructive sleep apnea Broad femoral neck Low-set ears Hirsutism Genu valgum Long philtrum Wide nasal bridge Postnatal growth retardation Intellectual disability, mild Brachycephaly Telecanthus Thin vermilion border Small hand Optic nerve hypoplasia Delayed eruption of teeth Microcornea Hypoplasia of the maxilla Triangular face Short foot Small face Cerebral visual impairment Pancreatic fibrosis Narrow chest Oral cleft Pulmonary hypoplasia Postaxial polydactyly Ambiguous genitalia Short ribs Short long bone Preaxial polydactyly Femoral bowing Thoracic dysplasia Lateral clavicle hook Acetabular spurs Polyhydramnios Atrial septal defect Hydronephrosis Anal atresia Tetralogy of Fallot Postaxial hand polydactyly Aganglionic megacolon Multicystic kidney dysplasia Renal hypoplasia/aplasia Abnormality of the metacarpal bones Hypoplastic left heart Tarsal synostosis Cleft lip Polydactyly Ectopic anus Decreased body weight Pain Hypertension Cardiomyopathy Renal insufficiency Dilatation Abnormal heart morphology Abdominal pain Pulmonic stenosis Short palm Recurrent fractures Specific learning disability Finger clinodactyly Hepatomegaly Aortic regurgitation Cutaneous syndactyly 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 Postaxial foot polydactyly Urogenital sinus anomaly Cutaneous photosensitivity Arachnodactyly Congenital localized absence of skin Mitten deformity Junctional split Short neck Behavioral abnormality Neonatal hypotonia Coloboma Camptodactyly of finger Short philtrum Small for gestational age Severe global developmental delay Interphalangeal joint contracture of finger Paronychia Long fingers Central apnea Hand clenching Abnormal oral frenulum morphology Abnormality iris morphology Bullet-shaped distal phalanx of the hallux Visual impairment Hypoplasia of the corpus callosum Posteriorly rotated ears Macrotia Irritability Dry skin Laryngeal stridor Laryngeal stenosis Urethral stricture Nail dysplasia Hydrometrocolpos Glandular hypospadias Anemia Alopecia Osteoporosis Respiratory failure Dyspnea Dilated cardiomyopathy Nail dystrophy Hypotrichosis Sepsis Abnormal blistering of the skin Esophageal stricture Dehydration Hypoplasia of dental enamel Hoarse voice Recurrent skin infections Pyloric stenosis Milia Atrophic scars Aplasia cutis congenita Onycholysis Ankyloglossia Squamous cell carcinoma of the skin Skin erosion Posterior helix pit



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