Intrauterine growth retardation, and Hyperkeratosis

Diseases related with Intrauterine growth retardation and Hyperkeratosis

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

Top matches:

Bone marrow failure syndrome-3 is an autosomal recessive disorder characterized by onset of pancytopenia in early childhood. Patients may have additional variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies (summary by Tummala et al., 2016).For a discussion of genetic heterogeneity of BMFS, see BMFS1 (OMIM ).

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about BONE MARROW FAILURE SYNDROME 3; BMFS3

X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.

X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE Is also known as x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE

Low match CHILD SYNDROME

CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.

CHILD SYNDROME Is also known as child syndrome|child nevus|ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs|congenital hemidysplasia with ichthyosiform nevus and limbs defects

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHILD SYNDROME

Other less relevant matches:

Low match LEPRECHAUNISM

Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

LEPRECHAUNISM Is also known as donohue syndrome|leprechaunism

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LEPRECHAUNISM

Low match COG6-CGD

CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).For a general discussion of CDGs, see CDG1A (OMIM ) and CDG2A (OMIM ).

COG6-CGD Is also known as congenital disorder of glycosylation type 2l|cdg syndrome type iil|cdg-iil|cdg2l|congenital disorder of glycosylation type iil|cdgiil|cdg iil

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COG6-CGD

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

Neu-Laxova syndrome-2 is a rare autosomal recessive disorder characterized by a recognizable pattern of severe congenital malformations leading to prenatal or early postnatal lethality. Affected patients have abnormal craniofacial features, microcephaly, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations, and edema of the hands and feet. Some patients have malformations of the central nervous system, such as abnormal gyration (summary by Acuna-Hidalgo et al., 2014).For a discussion of genetic heterogeneity of Neu-Laxova syndrome, see NLS1 (OMIM ).

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME 2; NLS2

Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome

Related symptoms:

  • Scoliosis
  • Growth delay
  • High palate
  • Visual impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Nystagmus
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE; TTD6

Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

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

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Ichthyosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Severe intrauterine growth retardation Low-set ears Micrognathia Abnormal facial shape Global developmental delay Small for gestational age Recurrent infections

Rare Symptoms - Less than 30% cases

Hip dysplasia Abnormal cardiac septum morphology Umbilical hernia Focal-onset seizure Abnormality of cardiovascular system morphology Lymphopenia Delayed skeletal maturation Proptosis Hepatic steatosis Decreased fetal movement Anemia Seizures Generalized hypotonia Abnormality of the liver Blindness Erythroderma Elevated hepatic transaminase Failure to thrive Hypertelorism Hepatomegaly Cerebral cortical atrophy Edema Cerebral atrophy Immunodeficiency Diarrhea High palate Abnormal intestine morphology Cerebellar atrophy Abnormality of skin pigmentation Myopia Dry skin Cholestasis Wide mouth Cutis laxa Motor delay Hypothyroidism Depressed nasal ridge Pancytopenia Hypermelanotic macule Dysphagia Visual impairment Postnatal growth retardation Thickened nuchal skin fold Abnormal cortical gyration Mild intrauterine growth retardation Intellectual disability, mild Congestive heart failure Postural instability Sudden cardiac death Abnormality of the pinna Short neck Gastrointestinal hemorrhage Bruising susceptibility Pruritus Sloping forehead Joint hyperflexibility Papule Stroke Rocker bottom foot Skin rash Retinopathy Scarring Reduced visual acuity Hypertension Visual loss Cardiomyopathy Dilatation Renal insufficiency Speech apraxia Cleft palate Carious teeth Generalized-onset seizure Waddling gait Chorea Muscle cramps Inability to walk Unsteady gait Abnormality of movement Poor speech Congenital cataract Lower limb spasticity Generalized tonic-clonic seizures Muscular dystrophy Attention deficit hyperactivity disorder Hyperlordosis Myalgia Proximal muscle weakness EEG abnormality Difficulty walking Apraxia Truncal ataxia Exophoria Achalasia Cerebral white matter atrophy Abnormal levels of creatine kinase in blood Intellectual disability, borderline Right ventricular dilatation Alacrima Muscle fiber atrophy Recurrent ear infections Cerebral calcification Esophagitis Scapular winging Progressive proximal muscle weakness Restrictive ventilatory defect Adrenal insufficiency Athetosis Impulsivity Gowers sign Limb-girdle muscular dystrophy CNS hypomyelination Infantile muscular hypotonia Abnormality of the skin Acne Abnormality of the cardiovascular system Erythematous papule Esotropia Microcornea Intellectual disability, moderate Pes cavus Nystagmus Medial calcification of small arteries Abnormal atrioventricular valve morphology Medial calcification of medium-sized arteries Premature occlusive vascular stenosis Subretinal fluid Broad-based gait Peau d'orange Peripapillary chorioretinal atrophy Medial calcification of large arteries Generalized arterial calcification Localized skin lesion Hyperkeratotic papule Arterial calcification Subcutaneous calcification Vascular calcification Bilateral sensorineural hearing impairment Coxa valga Civatte bodies Inflammatory abnormality of the skin Folliculitis Protein-losing enteropathy Osteosarcoma Atopic dermatitis Autoimmune hemolytic anemia Myelodysplasia Recurrent skin infections Bronchiectasis Abnormal lung morphology Eczema Brittle hair Neutropenia Hemolytic anemia Lymphadenopathy Respiratory tract infection Respiratory failure Glaucoma Tiger tail banding Long-tract signs Slow-growing hair Coronal craniosynostosis Accelerated atherosclerosis Abnormality of connective tissue Mitral valve prolapse Abnormality of the thorax Telangiectasia of the skin Multiple lipomas Chorioretinal atrophy Abnormal retinal morphology Coronary artery atherosclerosis Cutis marmorata Hemiplegia/hemiparesis Tricuspid regurgitation Constipation Intracranial hemorrhage Severe vision loss Redundant skin Hyperextensible skin Ischemic stroke Atherosclerosis Macular degeneration Nephrocalcinosis Subcutaneous nodule Mitral regurgitation Myocardial infarction Blue sclerae Striae distensae Abnormality of the mouth Renovascular hypertension Arteriosclerosis Metamorphopsia Angioid streaks of the fundus Intermittent claudication Retinal hemorrhage Abnormal endocardium morphology Choroidal neovascularization Ectopic calcification Pulmonary insufficiency Excessive wrinkled skin Arterial stenosis Drusen Pulmonary edema Abnormal mitral valve morphology Abnormal thrombocyte morphology Redundant neck skin Restrictive cardiomyopathy Lack of skin elasticity Angina pectoris Peripheral arterial stenosis Abnormality of the cerebral vasculature Mitral stenosis Brachycephaly Neurodevelopmental delay Elevated serum creatine phosphokinase Adrenal hypoplasia Thyroid hypoplasia Vertebral hypoplasia Subvalvular aortic stenosis Hypoplastic pelvis Hypoplastic scapulae Myelomeningocele Meningocele Parakeratosis Aplasia/hypoplasia of the extremities Epiphyseal stippling Short clavicles Congenital ichthyosiform erythroderma Renal hypoplasia/aplasia Congenital hip dislocation Short ribs Abnormality of the nail Coarctation of aorta Single ventricle Aplasia/Hypoplasia involving the central nervous system Renal agenesis Severe short stature Abdominal distention High, narrow palate Thick vermilion border Hirsutism Feeding difficulties in infancy Low-set, posteriorly rotated ears Hypoglycemia Macrotia Recurrent respiratory infections Parachute mitral valve Inguinal hernia Hernia Skeletal muscle atrophy Depressed nasal bridge Cognitive impairment Cryptorchidism Elevated 8(9)-cholestenol Elevated 8-dehydrocholesterol Cyanosis Nevus Type II diabetes mellitus Macrocephaly Short philtrum Cerebellar hypoplasia Microphthalmia Short nose Hydrocephalus Abnormality of the skeletal system Frontal bossing Chromosome breakage Short palm Acute myeloid leukemia Myeloid leukemia Bone marrow hypocellularity Microdontia Hypodontia Retinal dystrophy Leukemia Neoplasm Platyspondyly Short foot Pulmonary hypoplasia Metaphyseal cupping of proximal phalanges Cleft upper lip Hypotrichosis Erythema Hydronephrosis Alopecia Flexion contracture Hearing impairment Hypoplasia of the calcaneus Abnormality of the calcaneus Rhizomelia Distal shortening of limbs Metaphyseal cupping of metacarpals Severe platyspondyly Metaphyseal chondrodysplasia 11 pairs of ribs Decreased skull ossification Hypoplastic iliac wing Thin ribs Nail dysplasia Epidermal acanthosis Hyporeflexia Abnormal bleeding Combined immunodeficiency Loss of consciousness Inflammation of the large intestine Hyperbilirubinemia Hypohidrosis Chronic diarrhea Decreased antibody level in blood Postaxial polydactyly Impaired T cell function Cirrhosis Malabsorption Arthrogryposis multiplex congenita Muscular hypotonia of the trunk Aggressive behavior Neonatal hypotonia Hepatosplenomegaly Retrognathia Proximal tubulopathy Micronodular cirrhosis Polydactyly Feeding difficulties Absent speech Dystonia Myopathy Fatigue Gait disturbance Tremor Dysarthria Delayed speech and language development Spasticity Macrovesicular hepatic steatosis Cataract Pain Muscle weakness Strabismus Ataxia Type II transferrin isoform profile Abnormal T cell morphology Gastrointestinal inflammation Polyhydramnios Hyperhidrosis Thick lower lip vermilion Precocious puberty Hearing abnormality Lipoatrophy Reduced subcutaneous adipose tissue Decreased muscle mass Glucose intolerance Hyperglycemia Large hands Clitoral hypertrophy Hyperinsulinemia Long foot Cachexia Acanthosis nigricans Generalized hirsutism Gynecomastia Insulin resistance Hepatic fibrosis Gingival overgrowth Hypertrichosis Severe failure to thrive Concave nasal ridge Thrombocytopenia Elfin facies Vomiting Hypoplasia of the corpus callosum Ventriculomegaly Talipes equinovarus Epicanthus Asymmetry of the breasts Prominent nipples Adipose tissue loss Postprandial hyperglycemia Small face Female pseudohermaphroditism Absence of subcutaneous fat Pancreatic islet-cell hyperplasia Abnormality of the abdominal wall Thick nasal alae Long penis Fasting hypoglycemia Ovarian cyst Erythroid dysplasia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Muscular hypotonia of the trunk, related diseases and genetic alterations Dysarthria and Delayed puberty, related diseases and genetic alterations Muscle weakness and Short distal phalanx of finger, related diseases and genetic alterations Micrognathia and Corneal opacity, related diseases and genetic alterations Edema and Dystonia, related diseases and genetic alterations Generalized hypotonia and Hypertelorism, related diseases and genetic alterations