Intrauterine growth retardation, and Apraxia

Diseases related with Intrauterine growth retardation and Apraxia

In the following list you will find some of the most common rare diseases related to Intrauterine growth retardation and Apraxia that can help you solving undiagnosed cases.

Top matches:

Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3|tndm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSIENT NEONATAL DIABETES MELLITUS

Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S

Other less relevant matches:

Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.

DISTAL 22Q11.2 MICRODELETION SYNDROME Is also known as distal del(22)(q11.2)|distal monosomy 22q11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about DISTAL 22Q11.2 MICRODELETION SYNDROME

In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

CAYLER CARDIOFACIAL SYNDROME Is also known as depressor anguli oris muscle, hypoplasia of|facial paresis, partial, unilateral|asymmetric crying facies|acf

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CAYLER CARDIOFACIAL SYNDROME

Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY

Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23 Is also known as coxpd23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Apraxia

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

Other less frequent symptoms

Patients with Intrauterine growth retardation and Apraxia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Motor delay Hearing impairment Growth delay Short stature Neoplasm Abnormal facial shape Attention deficit hyperactivity disorder Deeply set eye Prominent nasal bridge Ataxia Inguinal hernia Abnormal heart morphology Strabismus Delayed speech and language development Cognitive impairment Gait disturbance Dysarthria Long face Language impairment Oculomotor apraxia Hyperlordosis Underdeveloped nasal alae Smooth philtrum Joint hyperflexibility Thin upper lip vermilion Recurrent respiratory infections Clinodactyly of the 5th finger Immunodeficiency Atrial septal defect Generalized hypotonia Sensorineural hearing impairment Postnatal growth retardation Generalized tonic-clonic seizures Bilateral ptosis Generalized myoclonic seizures Downturned corners of mouth Feeding difficulties in infancy

Rare Symptoms - Less than 30% cases

Malar flattening Ventricular septal defect Abnormality of cardiovascular system morphology Bowing of the long bones Hypertonia Choanal atresia Cleft palate Premature birth Highly arched eyebrow High, narrow palate Short distal phalanx of finger Short palm Interphalangeal joint contracture of finger Arachnodactyly Preauricular pit Clubbing Facial asymmetry Toe syndactyly Pointed chin Camptodactyly of finger Blepharophimosis Vomiting Delayed skeletal maturation Pes planus Narrow mouth Gastroesophageal reflux Umbilical hernia Depressivity Recurrent urinary tract infections Coxa valga Rigidity Triangular face Brain atrophy Anemia Cardiomyopathy Thrombocytopenia Hernia Broad nasal tip Clinodactyly Leukopenia Hypermetropia Small for gestational age Short philtrum Babinski sign Hypothyroidism Mandibular prognathia Renal hypoplasia High pitched voice Congestive heart failure Ulnar deviation of finger Sandal gap Aortic regurgitation Pyloric stenosis Aortic aneurysm Flexion contracture Bowel incontinence Truncus arteriosus Arrhythmia Tics Ankyloglossia Abnormality of earlobe Absent toenail Absent fingernail Low-set ears Branchial fistula Cryptorchidism Obsessive-compulsive behavior Tremor Hyperglycemia Arthrogryposis multiplex congenita Cataract Poor speech Diabetes mellitus Insulin resistance Renal tubular dysfunction Elevated hepatic transaminase Prominent metopic ridge Glycosuria Neurodevelopmental delay Constipation Retinopathy Scoliosis Cerebral atrophy Dystonia Cerebellar atrophy Fatigue Dehydration Coma Hepatomegaly Feeding difficulties Spasticity Autoimmune antibody positivity Ketonuria Speech apraxia Abnormality of the upper urinary tract Weight loss Athetosis Contractures of the joints of the lower limbs Impulsivity Muscular hypotonia Hypovolemia Abdominal pain Pallor Cough Corneal opacity Fever Dysphagia Mesocardia Lethargy Ophthalmoplegia Abnormality of eye movement Acidosis Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Irritability Diarrhea Respiratory distress Edema Developmental regression Apnea Hypoglycemia Splenomegaly Kyphosis Encephalopathy Hepatosplenomegaly Jaundice Osteopenia Polyhydramnios Dyspnea Dementia Myoclonus Broad fingertip Petechiae Curved fingers Abnormality of the hand Sprengel anomaly Short clavicles Proportionate short stature Celiac disease Lactic acidosis Trigonocephaly Abnormality of the voice Nasal speech Abnormality of the fingernails Cone-shaped epiphyses of the phalanges of the hand Nephrocalcinosis Finger clinodactyly Generalized hirsutism Short thumb Long eyelashes Broad thumb Recurrent otitis media Short palpebral fissure Low posterior hairline Lipoma Short columella Enlarged naris Spinal dysraphism Epididymal cyst Congenital posterior urethral valve Nausea Congenital pseudoarthrosis of the clavicle Pseudoarthrosis Persistent left superior vena cava Varicocele Expressive language delay Short upper lip Stiff neck Abnormality of the clavicle Tethered cord Broad columella Hyperextensibility of the finger joints Hypertrophic cardiomyopathy Enlarged joints 11 pairs of ribs Villous atrophy Enuresis Short attention span Lymphadenopathy Decreased fetal movement Cirrhosis Generalized osteosclerosis Supranuclear gaze palsy Congenital nonbullous ichthyosiform erythroderma Multiple myeloma Abnormality of the larynx Hypoxemia Abnormality of the spleen Avascular necrosis of the capital femoral epiphysis Restrictive deficit on pulmonary function testing Histiocytosis Slow saccadic eye movements Abnormal pattern of respiration Eclabion Hemophagocytosis Axial dystonia Abducens palsy Subcutaneous hemorrhage Hypoplasia of penis Spontaneous hematomas Intestinal bleeding Nonimmune hydrops fetalis Trismus Laryngeal stridor Congenital ichthyosiform erythroderma Opisthotonus Menorrhagia Heart murmur Akinesia Interstitial pulmonary abnormality Hypokinesia Exertional dyspnea Bulbar palsy Poor eye contact Bulbar signs Atrophy/Degeneration affecting the brainstem Protuberant abdomen Limb hypertonia Epileptic spasms Hepatocellular carcinoma Increased serum ferritin Aspiration pneumonia Fetal akinesia sequence Hypomagnesemia Giant cell hepatitis Hyponatremia Hepatic failure Pulmonary arterial hypertension Progressive microcephaly Hydrops fetalis Anorexia Thickened skin Absence seizures Decreased body weight Cholestasis Progressive neurologic deterioration Epistaxis EEG with temporal sharp waves Pancytopenia Abnormality of coagulation Cyanosis Abnormality of the skin Visual impairment Syncope Abnormal bleeding Ascites Pulmonary hypoplasia Bone pain Aspiration Orthopnea Decreased beta-glucocerebrosidase protein and activity Ectropion Abnormality of the thorax Portal hypertension Intracranial hemorrhage Cholelithiasis Poor suck CSF pleocytosis Erlenmeyer flask deformity of the femurs Hyperammonemia Purpura Cardiac arrest Osteolysis Hyperbilirubinemia Knee flexion contracture Hematological neoplasm Abnormal platelet aggregation Hypocalcemia Cardiac valve calcification Slowed horizontal saccades Elbow flexion contracture Coarctation of aorta Multinodular goiter Microdontia Right ventricular dilatation Hypoplasia of the corpus callosum Ventriculomegaly Peripheral neuropathy Nystagmus Exophoria Cerebral white matter atrophy Abnormal levels of creatine kinase in blood Intellectual disability, borderline Alacrima Recurrent infections Muscle fiber atrophy Recurrent ear infections Achalasia Esophagitis Progressive proximal muscle weakness Restrictive ventilatory defect Adrenal insufficiency Gowers sign Long philtrum Midface retrusion CNS hypomyelination Dysmetria Limb undergrowth Decreased testicular size Convex nasal ridge Renal agenesis Progressive cerebellar ataxia Polyneuropathy Sensory neuropathy Falls Synophrys Obesity Dilated cardiomyopathy Abnormal pyramidal sign Sparse hair High forehead Micropenis Hypogonadism Severe short stature Pes cavus Limb-girdle muscular dystrophy Infantile muscular hypotonia Bradykinesia Abnormality of the pancreatic islet cells Elevated serum creatine phosphokinase Hyporeflexia Absent speech Myopathy Myopia Pain Muscle weakness Elevated hemoglobin A1c Transient neonatal diabetes mellitus Cerebral cortical atrophy Maternal diabetes Steatorrhea Reduced pancreatic beta cells Neonatal insulin-dependent diabetes mellitus Pancreatic hypoplasia Microalbuminuria Peripheral axonal neuropathy Intellectual disability, severe Brachycephaly Hyperkeratosis Scapular winging Hepatic steatosis Truncal ataxia Lower limb spasticity Generalized-onset seizure Hip dysplasia Focal-onset seizure Waddling gait Chorea Muscle cramps Inability to walk Difficulty walking Unsteady gait Abnormality of movement Carious teeth Congenital cataract Muscular dystrophy Abnormality of the liver Myalgia Proximal muscle weakness EEG abnormality Pigmentary retinopathy Sloping forehead Otitis media Wide nasal bridge Posteriorly rotated ears Hypospadias Dilatation Headache Intellectual disability, mild Abnormality of the dentition Short neck Abnormality of the skeletal system Brachydactyly Hyperactivity Hyperreflexia Hypertension High palate Micrognathia Asymmetric crying face Dermoid cyst Body odor Small face Upslanted palpebral fissure Kyphoscoliosis Congenital contracture Neurological speech impairment Dental malocclusion Prominent nose Hypoplasia of the maxilla Small hand Hirsutism Bulbous nose Thin vermilion border Malabsorption Craniosynostosis Conductive hearing impairment Wide mouth Joint stiffness Intellectual disability, moderate Telecanthus Joint laxity Aggressive behavior Anxiety Arthritis Hydronephrosis Cupped ear Hemangioma Hypotelorism Goiter Cortical gyral simplification Ectopic kidney Sensory axonal neuropathy Bilateral cryptorchidism Unilateral renal agenesis Postural tremor Dysdiadochokinesis Slurred speech Acanthosis nigricans Long nose Short chin Bone marrow hypocellularity Hypergonadotropic hypogonadism Lymphopenia Abnormal lung morphology Broad-based gait Cutaneous photosensitivity Epidermal acanthosis Truncal obesity Cerebellar vermis atrophy Spina bifida occulta Patent ductus arteriosus Congenital hip dislocation Spina bifida Preauricular skin tag Tetralogy of Fallot Vesicoureteral reflux Hip dislocation Facial palsy Polydactyly Behavioral abnormality Abnormality of lipid metabolism Hypertelorism Long neck Gastrointestinal stroma tumor Glioma Chronic lung disease Shuffling gait Misalignment of teeth Low hanging columella Increased circulating gonadotropin level Increased serum lactate


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