Failure to thrive, and Hypertrichosis

Diseases related with Failure to thrive and Hypertrichosis

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

Top matches:

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IAA; CDG1AA

Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53 Is also known as spg53

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Failure to thrive
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53

Medium match RAMON SYNDROME

A slowly progressive syndrome of cherubic facies (fullness of the cheeks, producing a typical chubby face suggestive of a cherub) maxillary fibrous dysplasia, gingival enlargement, radiolucent lesions of the jaws, seizures, delayed mental development, stunted growth, and other defects. Insulin dependent diabetes mellitus and vascular skin lesions may occur.

RAMON SYNDROME Is also known as cherubism-gingival fibromatosis-intellectual disability syndrome|cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAMON SYNDROME

Other less relevant matches:

LEIGH SYNDROME WITH LEUKODYSTROPHY Is also known as leigh disease with leukodystrophy|infantile subacute necrotizing encephalopathy with leukodystrophy

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about LEIGH SYNDROME WITH LEUKODYSTROPHY

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

Medium match BARBER-SAY SYNDROME

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

BARBER-SAY SYNDROME Is also known as bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|hypertrichosis, atrophic skin, ectropion, and macrostomia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BARBER-SAY SYNDROME

Okur-Chung neurodevelopmental syndrome is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients (Okur et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS

Medium match LEIGH SYNDROME; LS

Leigh syndrome is an early-onset progressive neurodegenerative disorder with a characteristic neuropathology consisting of focal, bilateral lesions in one or more areas of the central nervous system, including the brainstem, thalamus, basal ganglia, cerebellum, and spinal cord. The lesions are areas of demyelination, gliosis, necrosis, spongiosis, or capillary proliferation. Clinical symptoms depend on which areas of the central nervous system are involved. The most common underlying cause is a defect in oxidative phosphorylation (Dahl, 1998).Leigh syndrome may be a feature of a deficiency of any of the mitochondrial respiratory chain complexes: complex I deficiency (OMIM ), complex II deficiency (OMIM ), complex III deficiency (OMIM ), complex IV deficiency (cytochrome c oxidase; {220110}), or complex V deficiency (OMIM ).

LEIGH SYNDROME; LS Is also known as necrotizing encephalopathy, infantile subacute, of leigh|sne

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEIGH SYNDROME; LS

Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION Is also known as kleefstra syndrome due to del(9)(q34)|9q subtelomeric deletion syndrome|kleefstra syndrome due to 9q subtelomeric deletion|kleefstra syndrome due to monosomy 9q34|9qstds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Abnormal facial shape Low-set ears Spasticity Muscular hypotonia Dystonia Micrognathia Generalized hypotonia Hypertelorism Scoliosis Ptosis Pigmentary retinopathy Anteverted nares Ventricular septal defect Ventriculomegaly Synophrys Intrauterine growth retardation

Rare Symptoms - Less than 30% cases

Feeding difficulties Increased CSF lactate Emotional lability Leukodystrophy Ophthalmoplegia Increased serum lactate Hypertrophic cardiomyopathy Anemia Hyperreflexia Acidosis Dysarthria Strabismus Optic atrophy Pachygyria Talipes equinovarus Wide mouth Ataxia Dysphagia Behavioral abnormality Highly arched eyebrow Protruding tongue Cutis laxa Triangular face Thin vermilion border Wide nasal bridge Atrial septal defect Cortical gyral simplification Clitoral hypertrophy Gingival fibromatosis Coarctation of aorta Asthma Small for gestational age Abnormal cardiac septum morphology Respiratory failure Nystagmus Decreased activity of the pyruvate dehydrogenase complex Delayed eruption of teeth Generalized hirsutism Pallor Delayed speech and language development Conductive hearing impairment Optic disc pallor Status epilepticus Telangiectasia Gait disturbance Kyphosis Sensorineural hearing impairment Short stature Cerebral cortical atrophy Difficulty walking Metabolic acidosis Echolalia Gliosis Neurodegeneration Peripheral demyelination Lactic acidosis Progressive neurologic deterioration Truncal ataxia Renal insufficiency Incoordination Failure to thrive in infancy Asymmetric septal hypertrophy Epileptic spasms CNS demyelination Abnormal pattern of respiration Respiratory arrest Hepatocellular necrosis Mitochondrial respiratory chain defects Episodic metabolic acidosis Depressed nasal bridge Hepatomegaly Abnormality of eye movement Encephalopathy Developmental regression Joint hypermobility Conotruncal defect Brachydactyly Subcortical cerebral atrophy Absent speech Clinodactyly Constipation Thin upper lip vermilion Joint laxity Attention deficit hyperactivity disorder Poor speech Femoral hernia Abnormality of the eye Decreased antibody level in blood Atonic seizures IgA deficiency Abnormality of the testis IgG deficiency Skeletal muscle atrophy Respiratory insufficiency Cardiomyopathy Cerebral atrophy Edema Muscular hypotonia of the trunk Absent septum pellucidum Patent ductus arteriosus Dysphasia Anxiety Macroglossia Patent foramen ovale Sleep disturbance Dextrocardia Premature skin wrinkling Everted lower lip vermilion Downturned corners of mouth Biventricular hypertrophy Micronodular cirrhosis Irritability Functional respiratory abnormality Infra-orbital crease Poor suck Autism Brachycephaly Abnormality of the clitoris Agenesis of corpus callosum Inguinal hernia Depressivity Obesity Increased serum bile acid concentration Abnormality of glutamine metabolism Cryptorchidism Short nose Vesicoureteral reflux Specific learning disability Aphasia Abnormal bleeding Splenomegaly Thrombocytopenia Midface retrusion Hepatosplenomegaly Flat occiput Apathy Hydronephrosis Abnormality of the kidney Short philtrum Mutism Cirrhosis Oligohydramnios Deep philtrum Aortic regurgitation Pancytopenia Absence seizures Hepatic fibrosis Aortic valve stenosis Hypoplasia of penis Wide anterior fontanel Decreased liver function Tetralogy of Fallot Hydrops fetalis Situs inversus totalis Epicanthus Depressed nasal ridge High palate Apnea Abnormality of dental enamel Osteolysis Rheumatoid arthritis Telangiectasia of the skin Juvenile rheumatoid arthritis Abnormal anterior chamber morphology Angiokeratoma Axenfeld anomaly Enlarged labia minora Peripheral neuropathy Intellectual disability, severe Abnormality of movement Abnormality of retinal pigmentation Progressive cerebellar ataxia Progressive spastic paraplegia Decreased activity of mitochondrial respiratory chain Focal T2 hyperintense basal ganglia lesion Respiratory distress Immunodeficiency Hernia Recurrent respiratory infections Polyhydramnios Protruding ear Long face Narrow palate Decreased body weight Ambiguous genitalia Clonus Visual impairment Neuronal loss in central nervous system No social interaction Cognitive impairment Motor delay Hypertonia Pectus carinatum Spastic paraplegia Joint hyperflexibility Paraplegia Lower limb spasticity Impaired vibratory sensation Full cheeks Cortical dysplasia Limb dystonia Impaired proprioception Hyperreflexia in upper limbs Abnormality of the auditory canal Upper limb hypertonia Diabetes mellitus Hyperkeratosis Arthritis Retinopathy Abnormality of skin pigmentation Convex nasal ridge Decreased fetal movement Abnormality of male external genitalia Shawl scrotum Hyperextensible skin Dermal atrophy Atresia of the external auditory canal Redundant skin Sparse eyebrow Ectropion Cupped ear Aplasia/Hypoplasia of the eyebrow Long nose Aplasia/Hypoplasia of the skin Hypoplastic nipples Inverted nipples Sparse and thin eyebrow Taurodontia Skin tags Absent nipple Sparse or absent eyelashes Breast aplasia Broad alveolar ridges Generalized hypertrichosis Abnormality of female external genitalia Mild hearing impairment Frontal hirsutism Ablepharon Low anterior hairline Abnormality of the face Congenital diaphragmatic hernia Mandibular prognathia Abnormal lung morphology Recurrent urinary tract infections Narrow face Multicystic kidney dysplasia Scaphocephaly Recurrent lower respiratory tract infections Chronic lung disease Pulmonary artery hypoplasia Cleft palate Short neck Hypospadias Rigidity Abnormality of the genital system Telecanthus Abnormality of the pinna Microtia Dry skin Bulbous nose Hirsutism High, narrow palate Ectodermal dysplasia Dental malocclusion Underdeveloped nasal alae Abnormality of the skin Microdontia Cerebral cortical hemiatrophy


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