Failure to thrive, and Brachycephaly

Diseases related with Failure to thrive and Brachycephaly

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

Top matches:

Methylmalonic acidemia and homocysteinemia, cblX type, is an X-linked recessive metabolic disorder characterized by severely delayed psychomotor development apparent in infancy. It is associated with failure to thrive, mental retardation, and intractable epilepsy. Additional features may include microcephaly and choreoathetosis (summary by Yu et al., 2013).

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLX Is also known as combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblx|mrx3|mental retardation, x-linked 3|methylmalonic aciduria with homocystinuria, type cblx

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLX

Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.

COMMON VARIABLE IMMUNODEFICIENCY Is also known as primary antibody deficiency|cvid|antibody deficiency due to icos defect|idiopathic immunoglobulin deficiency|primary hypogammaglobulinemia

Related symptoms:

  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMMON VARIABLE IMMUNODEFICIENCY

Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B Is also known as autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|arcl2, progeroid type|arcl2b

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B

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

Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.

AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY Is also known as asd due to auts2 deficiency|auts2 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY

INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE Is also known as imnepd

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE

Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by Shamseldin et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2

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

Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. Affected individuals show very poor, if any, normal cognitive development. Some patients are never learn to sit or walk independently (summary by Al-Sayed et al., 2013). Genetic Heterogeneity of Infantile Hypotonia with Psychomotor Retardation and Characteristic FaciesSee also IHPRF2 (OMIM ), caused by mutation in the UNC80 gene (OMIM ) on chromosome 2q34; and IHPRF3 (OMIM ), caused by mutation in the TBCK gene (OMIM ) on chromosome 4q24.

HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1 Is also known as ihprf

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Downslanted palpebral fissures Hypertelorism Generalized hypotonia Short stature Low-set ears Abnormal facial shape Strabismus Frontal bossing Midface retrusion Scoliosis Triangular face Micrognathia Broad forehead Delayed speech and language development Hypoplasia of the maxilla Prominent forehead Epicanthus Ptosis Growth delay Flexion contracture Thin upper lip vermilion Poor speech

Rare Symptoms - Less than 30% cases

Malar flattening Joint laxity Deeply set eye Osteopenia Gastroesophageal reflux Absent speech Agenesis of corpus callosum Ventriculomegaly Hydrocephalus Short philtrum Abnormality of the skeletal system Highly arched eyebrow Anteverted nares Intrauterine growth retardation Nystagmus Hearing impairment Cerebellar atrophy Postnatal growth retardation Hip dislocation Hyperreflexia Dental malocclusion Spasticity High forehead Muscular hypotonia of the trunk Severe global developmental delay Smooth philtrum Sleep disturbance Posteriorly rotated ears Short palpebral fissure Cryptorchidism Wide mouth Short nose Small hand Renal insufficiency Narrow mouth Constipation Hyperactivity Large fontanelles Autism Infantile muscular hypotonia Bulbous nose Optic atrophy Choreoathetosis Hepatomegaly Anxiety Behavioral abnormality Tapered finger Failure to thrive in infancy Dyskinesia Inability to walk Craniofacial dysostosis Echolalia Abnormal sacrum morphology Prominent nasal bridge Brachyturricephaly Bicoronal synostosis Membranous nephropathy Short uvula Skeletal muscle atrophy Inflammatory abnormality of the eye Esotropia Brain atrophy Prominent nose Intellectual disability, profound Open mouth Severe muscular hypotonia Plagiocephaly Cloverleaf skull Tented upper lip vermilion Cachexia Global brain atrophy Hip contracture Facial hypotonia Profound global developmental delay Generalized tonic seizures Edema Developmental regression Macrotia Pancreatic fibrosis Poor eye contact Exotropia Hepatic fibrosis Progressive microcephaly Sensorimotor neuropathy Proximal placement of thumb Steatorrhea Shawl scrotum Exocrine pancreatic insufficiency Decreased motor nerve conduction velocity Ankle contracture Spastic tetraparesis Neonatal hypotonia Short neck Tetraparesis Hypoplasia of the corpus callosum Dystonia Cerebral atrophy Spastic tetraplegia Neurodegeneration Encephalopathy Abnormality of the cerebral white matter Pectus carinatum Abnormal pyramidal sign Appendicular hypotonia Choanal stenosis Turricephaly Profound static encephalopathy Epileptic spasms Acanthosis nigricans Aphasia Decreased fetal movement Dysphasia Abnormal form of the vertebral bodies Choanal atresia Absent septum pellucidum Epidermal acanthosis Convex nasal ridge Short metacarpal Migraine Protruding tongue Nevus Flat occiput Hypopigmentation of the skin Dry skin Craniosynostosis Conductive hearing impairment Proptosis Respiratory insufficiency Brachydactyly Visual impairment Cleft palate Cerebral cortical hemiatrophy Conotruncal defect Subcortical cerebral atrophy Femoral hernia Abnormal palate morphology Apathy Abnormality of the testis Downturned corners of mouth Muscular hypotonia Proportionate short stature Aplasia/Hypoplasia of the cerebellum Melanocytic nevus Glomerulonephritis Obesity Depressivity Laryngomalacia Inguinal hernia Cerebral cortical atrophy Irritability Abnormal cardiac septum morphology Synophrys Everted lower lip vermilion Mutism Increased intracranial pressure Abnormality of the metacarpal bones Macroglossia Vesicoureteral reflux Specific learning disability Tetralogy of Fallot Hypoplasia of penis Coarctation of aorta Status epilepticus Aortic valve stenosis Absence seizures Aortic regurgitation Arnold-Chiari malformation Postnatal microcephaly Hypertonia Progressive cerebellar ataxia Lymphoproliferative disorder Recurrent pneumonia Recurrent bacterial infections Conjunctivitis Purpura Abnormal intestine morphology Chronic otitis media Emphysema Restrictive ventilatory defect Bronchitis Recurrent sinusitis IgA deficiency Autoimmune thrombocytopenia IgG deficiency Recurrent bronchitis IgM deficiency Lymphopenia B lymphocytopenia Impaired T cell function Gastrointestinal stroma tumor Recurrent infection of the gastrointestinal tract Autoimmune neutropenia Humoral immunodeficiency Posterior pharyngeal cleft Osteoporosis Mandibular prognathia Protruding ear Joint hypermobility Recurrent fractures Hypotelorism Blue sclerae Vasculitis Sinusitis Congenital hip dislocation Immunodeficiency High palate Acidosis Aggressive behavior Hypermetropia Chorea Hypsarrhythmia Increased body weight Short chin Athetosis Methylmalonic aciduria Homocystinuria Methylmalonic acidemia Diarrhea Splenomegaly Recurrent infections Bronchiectasis Pneumonia Recurrent respiratory infections Arthralgia Elevated hepatic transaminase Abnormality of the liver Autoimmunity Anal atresia Lymphadenopathy Hemolytic anemia Neutropenia Lymphoma Decreased antibody level in blood Otitis media Recurrent otitis media Bowing of the long bones Cutis laxa Distal muscle weakness Arthrogryposis multiplex congenita Hypoplasia of teeth Cutaneous syndactyly of toes Cranial hyperostosis Broad long bones Persistent pupillary membrane Macrodontia of permanent maxillary central incisor Fifth finger distal phalanx clinodactyly 4-5 finger syndactyly 2-4 toe cutaneous syndactyly Macrocephaly Atrial septal defect Kyphosis Autistic behavior Small for gestational age Thick eyebrow Mild global developmental delay Thick vermilion border Microretrognathia Cerebral palsy Wide nasal base Prominent nasal tip Decreased palmar creases Ataxia Sensorineural hearing impairment Muscle weakness Motor delay Peripheral neuropathy Talipes equinovarus Hyporeflexia Hypothyroidism Large earlobe Spinal cord compression Growth abnormality Telecanthus Redundant skin Premature skin wrinkling Prominent superficial veins Colpocephaly Narrow nasal ridge Abnormal glycosylation Cataract Myopia Abnormality of the dentition Long philtrum Syndactyly Microphthalmia Clinodactyly Delayed skeletal maturation Toe syndactyly Narrow nose Dental crowding Basal ganglia calcification Long nose Hyperostosis Abnormality of dental morphology Sparse eyelashes Abnormality of dental enamel Sparse scalp hair Thin vermilion border Fine hair Overgrowth Underdeveloped nasal alae Microcornea Delayed eruption of teeth Short foot Slender nose


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Broad forehead, related diseases and genetic alterations Fever and Muscle cramps, related diseases and genetic alterations Pain and Agenesis of corpus callosum, related diseases and genetic alterations Cryptorchidism and Apraxia, related diseases and genetic alterations