Intrauterine growth retardation, and Dry skin

Diseases related with Intrauterine growth retardation and Dry skin

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

Top matches:

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

Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes; see these terms).

Related symptoms:

  • Short stature
  • Peripheral neuropathy
  • Brachydactyly
  • Intrauterine growth retardation
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about RABSON-MENDENHALL SYNDROME

Other less relevant matches:

Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal skin pigmentation. Affected individuals have an increased risk of aplastic anemia and malignancy. Less common features include epiphora, premature gray hair, microcephaly, developmental delay, and pulmonary fibrosis, among others. The phenotype is highly variable. All affected individuals have shortened telomeres due to a defect in telomere maintenance (summary by Savage et al., 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DCKA1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3

Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

High match MENKES DISEASE

Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

MENKES DISEASE Is also known as steely hair syndrome|md|trichopoliodystrophy|mnk|menkes syndrome|steely hair disease|copper transport disease|mk|kinky hair syndrome|x-linked copper deficiency|kinky hair disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MENKES DISEASE

Caused by mutations of gene ERCC6.

COCKAYNE SYNDROME TYPE 2 Is also known as cockayne syndrome type ii

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COCKAYNE SYNDROME TYPE 2

Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

High match DUBOWITZ SYNDROME

Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DUBOWITZ SYNDROME

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Dry skin

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% 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
Growth delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Anemia Seizures Cryptorchidism Postnatal growth retardation Fine hair Eczema Nystagmus Failure to thrive Osteoporosis Hearing impairment Cataract Abnormality of skin pigmentation Motor delay Recurrent infections Hernia Small for gestational age Sparse hair Thrombocytopenia Abnormality of the hair Respiratory tract infection Ichthyosis Chronic diarrhea Immunodeficiency Spasticity Diarrhea Intellectual disability, severe Delayed skeletal maturation

Rare Symptoms - Less than 30% cases

Inguinal hernia Hypertelorism Pectus excavatum Atypical scarring of skin Leukopenia Dilatation Cerebral atrophy Behavioral abnormality Pancytopenia Nail dysplasia Muscular hypotonia Depressed nasal bridge Gastrointestinal hemorrhage Lymphoma Hypertonia Nail dystrophy Osteopenia Cerebellar hypoplasia Submucous cleft hard palate Alopecia Cognitive impairment Wide nasal bridge Hepatomegaly Hydronephrosis Underdeveloped supraorbital ridges Iron deficiency anemia Developmental regression Malabsorption Joint hyperflexibility Micrognathia Umbilical hernia Sepsis Sparse scalp hair Trichorrhexis nodosa Woolly hair Wide mouth Abnormality of the pinna Jaundice Myopia Abnormal heart morphology Dementia Anteverted nares Frontal bossing Scoliosis Abnormality of the liver Cerebral calcification Hypertension Erythroderma Mandibular prognathia Abnormality of the dentition Brachydactyly Kyphosis Microphthalmia Severe short stature Attention deficit hyperactivity disorder Abnormal intestine morphology Proteinuria Abnormal lung morphology Abnormality of cardiovascular system morphology Cutaneous photosensitivity Opacification of the corneal stroma Hypoplasia of the corpus callosum Abnormal facial shape Brittle hair Microcornea Tremor Muscle weakness Ataxia Abnormality of the upper urinary tract Coarse hair Flexion contracture Thickened skin Asthma Strabismus Abnormal posturing Self-mutilation Hyperreflexia Abnormality of the fingernails Low anterior hairline Vomiting Narrow face Malnutrition Wide anterior fontanel Headache Broad thumb Obsessive-compulsive behavior Sloping forehead Depressivity Delayed eruption of teeth Short foot Spina bifida occulta Cerebellar calcifications Sandal gap Peripheral dysmyelination Normal pressure hydrocephalus Increased cellular sensitivity to UV light Cutis marmorata Hypoplastic toenails Severe photosensitivity Slender nose Sacral dimple Square pelvis bone Hypoplastic left heart Scleroderma Ivory epiphyses of the phalanges of the hand Abnormal peripheral myelination Patchy demyelination of subcortical white matter Subcortical white matter calcifications Aplasia/Hypoplasia of the corpus callosum Toe syndactyly Small hand Craniosynostosis Blepharophimosis Generalized hypopigmentation Pruritus Neoplasm Abnormality of the cerebral white matter Blue irides Nausea Maternal hyperphenylalaninemia Fair hair Reduced phenylalanine hydroxylase activity High palate Phenylpyruvic acidemia Increased level of hippuric acid in urine Microphakia Prenatal maternal abnormality Hyperphenylalaninemia Body odor Folate deficiency Ptosis Delayed myelination Spontaneous abortion Psychosis Mood changes Protruding ear Hyperactivity Low-set, posteriorly rotated ears Telecanthus Autism Clinodactyly of the 5th finger Anxiety Epicanthus Aggressive behavior Coarctation of aorta Poor coordination Irritability Hydrocephalus Respiratory insufficiency Skin rash Hypospadias Camptodactyly Metatarsus adductus Hydroureter Alopecia of scalp Parakeratosis Uveitis Oligodactyly Ectrodactyly Atonic seizures Congenital ichthyosiform erythroderma Abnormality of the vertebral column Absent septum pellucidum Mixed hearing impairment Absent eyebrow Abnormal eyelash morphology Keratitis Intestinal obstruction Bifid scrotum Unilateral renal agenesis Psoriasiform dermatitis Scaling skin Urticaria Abnormality of the hand Plagiocephaly Abnormality of dental enamel Conjunctivitis Blepharitis Absent eyelashes Hemivertebrae Subcortical cerebral atrophy Ichthyosis follicularis Abnormal pelvis bone morphology Thin fingernail Scleritis Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Abnormality of temperature regulation Abnormal nasolacrimal system morphology Corneal scarring Abnormal eyelid morphology Cheilitis Alopecia universalis Oxycephaly Thin eyebrow Alopecia totalis Olivopontocerebellar atrophy Recurrent corneal erosions Hypoplastic fingernail Heat intolerance Follicular hyperkeratosis Corneal erosion Recurrent bacterial infections Multicystic kidney dysplasia Delayed cranial suture closure Ventriculomegaly Abnormality of the kidney Mental deterioration Photophobia Macrotia Hyperkeratosis Polydactyly Cerebral cortical atrophy Hyperhidrosis Recurrent respiratory infections Agenesis of corpus callosum Respiratory distress Feeding difficulties Erythema Cleft palate Abnormality of thumb phalanx Abnormality of female external genitalia Abnormality of neutrophils Rectal prolapse Sparse lateral eyebrow Abnormality of the antihelix Hypoparathyroidism Acute lymphoblastic leukemia Anal stenosis Aplasia/Hypoplasia of the thumb Decreased lacrimation Scarring Abnormality of the nail Specific learning disability Abnormal vertebral morphology Hypohidrosis Hypoplasia of dental enamel Renal dysplasia Aganglionic megacolon Omphalocele Choanal atresia Epidermal acanthosis Abnormality of the ribs Oligohydramnios Postaxial hand polydactyly Ectodermal dysplasia Camptodactyly of finger Brain atrophy Palmoplantar keratoderma Postaxial polydactyly Pulmonary hypoplasia Astigmatism Talipes Hypotrichosis Platyspondyly Papule Hip dislocation Corneal opacity Loss of facial adipose tissue Aplasia/Hypoplasia of the abdominal wall musculature Delayed eruption of primary teeth Reticulated skin pigmentation Proptosis Narrow mouth Prominent forehead Long philtrum Edema Ventricular septal defect Downslanted palpebral fissures Low-set ears Pulmonary hemorrhage Phimosis Elevated hepatic transaminase Esophageal stricture Aplastic anemia Oral leukoplakia Aseptic necrosis Hodgkin lymphoma Interstitial pulmonary abnormality Premature graying of hair Pulmonary fibrosis Epiphora Polyhydramnios Microtia Bone marrow hypocellularity Aortic regurgitation Abnormal thrombocyte morphology Abnormality of the pancreas Villous atrophy Large forehead Thrombocytosis Curly hair Abnormality of the immune system Hypoalbuminemia Recurrent upper respiratory tract infections Hepatic fibrosis Broad forehead Depressed nasal ridge Tetralogy of Fallot Aciduria Premature birth Bifid uvula Wide nose Hepatic failure Cirrhosis Delayed puberty Pulmonic stenosis Portal hypertension Hyperpigmentation of the skin Increased mean platelet volume Blindness Lymphopenia Bronchiectasis Inflammatory abnormality of the skin Neutropenia Hemolytic anemia Lymphadenopathy Hypothyroidism Respiratory failure Glaucoma Tiger tail banding Myelodysplasia Mild intrauterine growth retardation Long-tract signs Slow-growing hair Coronal craniosynostosis Coxa valga Broad-based gait Bilateral sensorineural hearing impairment Esotropia Intellectual disability, moderate Pes cavus Recurrent skin infections Autoimmune hemolytic anemia Retinopathy Precocious puberty Delayed speech and language development Female pseudohermaphroditism Abnormality of the abdominal wall Advanced eruption of teeth Long penis Thick nail Growth hormone excess Prematurely aged appearance Abnormality of the thyroid gland Polycystic ovaries Atopic dermatitis Acanthosis nigricans Generalized hirsutism Coarse facial features Diabetes mellitus Peripheral neuropathy Erythroid dysplasia Folliculitis Protein-losing enteropathy Osteosarcoma Severe intrauterine growth retardation Peripheral pulmonary artery stenosis Intermittent diarrhea Abnormal auditory evoked potentials Spontaneous hematomas Renal insufficiency Splenomegaly Optic atrophy Sensorineural hearing impairment Therapeutic abortion Metaphyseal spurs Abnormal carotid artery morphology Hypocupremia Multiple joint dislocation Arterial stenosis Micropenis Venous insufficiency Bladder diverticulum Chondrocalcinosis Pili torti Hypothermia Exostoses Abnormality of lipid metabolism Hypopigmentation of hair Prolonged neonatal jaundice Arrhythmia Deeply set eye Prominent occiput Thickened calvaria Hypoplasia of teeth Dry hair Hypoplastic pelvis Hypoplastic iliac wing Progeroid facial appearance Severe failure to thrive Hypoplasia of the iris Abnormality of visual evoked potentials Basal ganglia calcification Reduced subcutaneous adipose tissue Prominent nasal bridge Anhidrosis Decreased nerve conduction velocity Dermal atrophy Pigmentary retinopathy Dental malocclusion Limitation of joint mobility Polyneuropathy Carious teeth Congenital cataract Hypermetropia Tarsal synostosis Opisthotonus Intractable diarrhea Dysarthria Narrow chest Nausea and vomiting Severe global developmental delay Feeding difficulties in infancy Joint laxity Hypoglycemia Brachycephaly Cerebellar atrophy Fatigue Generalized hypotonia Hypopigmentation of the skin Abnormalities of placenta or umbilical cord Large placenta Abnormality of iron homeostasis Galactosuria Humoral immunodeficiency Hypermethioninemia Renal cortical microcysts Increased serum iron Hypergalactosemia Secretory diarrhea Neurodegeneration Recurrent fractures Osteomyelitis Spastic tetraparesis Myopathic facies Cerebral hemorrhage Mask-like facies Metaphyseal widening Intracranial hemorrhage Hyperextensible skin Abnormal palate morphology Shock Cutis laxa Joint dislocation Full cheeks Wormian bones Abnormality of the face Bowing of the long bones Abnormality of the metaphysis Choreoathetosis Progressive neurologic deterioration Tetraparesis Intellectual disability, profound Generalized-onset seizure Chorea Unilateral chest hypoplasia


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