Intrauterine growth retardation, and Ectodermal dysplasia

Diseases related with Intrauterine growth retardation and Ectodermal dysplasia

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

Top matches:

Medium match HARTSFIELD SYNDROME

Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.

HARTSFIELD SYNDROME Is also known as holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HARTSFIELD SYNDROME

Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline, defects of development resulting from unknown factor(s) operating in utero from about the 35th-38th day after conception.

SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME Is also known as single central maxillary incisor|smmci|fused incisors|single upper central incisor|incisors, fused

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME

Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.

ELLIS VAN CREVELD SYNDROME Is also known as mesodermic dysplasia|mesoectodermal dysplasia|chondroectodermal dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ELLIS VAN CREVELD SYNDROME

Other less relevant matches:

Medium match NEU-LAXOVA SYNDROME

Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.

NEU-LAXOVA SYNDROME Is also known as neu-laxova syndrome|3-phosphoglycerate dehydrogenase deficiency, neonatal form|nls

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEU-LAXOVA 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

Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.

HYPOTRICHOSIS WITH JUVENILE MACULAR DEGENERATION Is also known as hypotrichosis with juvenile macular dystrophy|hypotrichosis with cone-rod dystrophy|hjmd

Related symptoms:

  • Short stature
  • Nystagmus
  • Blindness
  • Abnormality of the dentition
  • Alopecia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HYPOTRICHOSIS WITH JUVENILE MACULAR DEGENERATION

Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.

AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS Is also known as bullous congenital ichthyosiform erythroderma of brock|epidermolytic ichthyosis|bie|bullous congenital ichthyosiform erythroderma|ehk|bullous erythroderma ichthyosiformis congenita of brocq|bcie|bullous ichthyosiform erythroderma|ichthyosis hystrix brocq

Related symptoms:

  • Growth delay
  • Hyperhidrosis
  • Hyperkeratosis
  • Weight loss
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS

Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia.

SALDINO-MAINZER SYNDROME Is also known as renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome|conorenal syndrome

Related symptoms:

  • Short stature
  • Cryptorchidism
  • Delayed speech and language development
  • Brachydactyly
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about SALDINO-MAINZER SYNDROME

Mutations in the NFKBIA gene result in functional impairment of NFKB1 (OMIM ), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Delayed speech and language development
  • Frontal bossing
  • Diarrhea


SOURCES: OMIM MESH MENDELIAN

More info about ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Ectodermal dysplasia

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Cleft lip Agenesis of corpus callosum Microphthalmia Cleft upper lip Abnormality of the nail Scoliosis Polydactyly Nail dystrophy Nystagmus Strabismus Ectrodactyly Severe short stature Absent septum pellucidum Alopecia Recurrent respiratory infections Hyperhidrosis Renal agenesis Hyperkeratosis Abnormality of dental enamel Camptodactyly Sparse hair Ichthyosis Short ribs Ventricular septal defect Micromelia Heat intolerance Postaxial polydactyly Abnormality of cardiovascular system morphology Abnormality of the dentition Hypodontia Erythema Nail dysplasia Syndactyly Hypotrichosis Abnormality of the hair Postaxial hand polydactyly Abnormality of the skeletal system Failure to thrive

Rare Symptoms - Less than 30% cases

Mild short stature Finger syndactyly Abnormal cardiac septum morphology Abnormality of the pinna Macrotia Polyhydramnios Cerebellar hypoplasia Patent ductus arteriosus Limb undergrowth Delayed eruption of teeth Dandy-Walker malformation Clinodactyly Hydroureter Kyphosis Ventriculomegaly Flexion contracture Micrognathia Thoracic dysplasia Aplasia/Hypoplasia of the lungs Foot polydactyly Short long bone Hand polydactyly Short thorax Thoracic hypoplasia Renal hypoplasia/aplasia Absent eyelashes Toe syndactyly Palmoplantar keratoderma Umbilical hernia Hydronephrosis Respiratory tract infection Scarring Camptodactyly of finger Corneal opacity Papule Dry skin Epidermal acanthosis Inguinal hernia Omphalocele Hypoplasia of dental enamel Hypohidrosis Multicystic kidney dysplasia Scaling skin Erythroderma Mixed hearing impairment Congenital ichthyosiform erythroderma Brachydactyly Hernia Pulmonary hypoplasia Abnormal nasolacrimal system morphology Abnormality of the skin Brittle hair Spina bifida Recurrent skin infections Ectropion Submucous cleft hard palate Abnormal eyelash morphology Abnormal eyelid morphology Reduced visual acuity Recurrent infections Weight loss Hearing impairment Global developmental delay Obesity Frontal bossing Respiratory distress Blindness Immunodeficiency Narrow chest Horizontal ribs Oligodactyly Semilobar holoprosencephaly Sparse scalp hair Respiratory insufficiency Anophthalmia Hypospadias Hypogonadism Specific learning disability Ambiguous genitalia Hypernatremia Depressed nasal ridge Fine hair Choanal atresia Delayed speech and language development Oral cleft Hypotelorism Abnormality of digit Split hand Holoprosencephaly Narrow nasal bridge Iris coloboma Duodenal atresia Abnormality of the kidney Skeletal dysplasia Talipes equinovarus Seizures Coloboma Hypertelorism Ptosis Delayed skeletal maturation Low-set ears Abnormal heart morphology Overgrowth Abdominal pain Conjunctival hamartoma Disseminated intravascular coagulation Stage 5 chronic kidney disease Renal insufficiency Rod-cone dystrophy Poor appetite Nephrocalcinosis Hydrocephalus Abnormality of the genitourinary system Abnormality of epiphysis morphology Dysphagia Telangiectasia Gastroesophageal reflux Subcutaneous nodule Abnormality of skin pigmentation Congenital diaphragmatic hernia Short metacarpal Interphalangeal joint contracture of finger Renal hypoplasia Intestinal malrotation Broad nasal tip Congenital bullous ichthyosiform erythroderma Generalized hyperkeratosis Dental malocclusion Thin skin Facial asymmetry Abnormality of the foot Pruritus Microtia Cough Hypernatremic dehydration Joint laxity Metaphyseal widening Hepatosplenomegaly Bell-shaped thorax Thin eyebrow Abnormality of temperature regulation Anhidrotic ectodermal dysplasia Subcortical cerebral atrophy Recurrent infection of the gastrointestinal tract Corneal scarring Abnormality of the upper urinary tract Cheilitis Alopecia universalis Oxycephaly Alopecia totalis Lymphocytosis Periorbital wrinkles Olivopontocerebellar atrophy Aplasia of the sweat glands Recurrent corneal erosions Hypoplastic fingernail Follicular hyperkeratosis Corneal erosion Blepharitis Alopecia of scalp Hyperconvex fingernails Episcleritis Lateral clavicle hook Bronchiectasis Diarrhea Optic atrophy Pneumonia Hoarse voice Cognitive impairment Arthritis Neoplasm Unilateral chest hypoplasia Chronic diarrhea Anhidrosis Paronychia Leukocytosis Ichthyosis follicularis Agammaglobulinemia Abnormal pelvis bone morphology Conical tooth Thin fingernail Scleritis Concave nasal ridge Hypoplasia of the bladder Cerebral cortical hemiatrophy Short phalanx of finger Abnormality of the pulmonary vasculature Increased body weight Macular dystrophy Rough bone trabeculation Absent toenail Clitoral hypoplasia Inspiratory stridor Papilloma Total anomalous pulmonary venous return Melanocytic nevus Abnormality of hair texture Abnormal cornea morphology Hand oligodactyly Cone/cone-rod dystrophy Ureteral duplication Freckling Bifid nose Skin nodule Anomalous pulmonary venous return Parakeratosis Hypoplasia of teeth Cholangitis Labial hypoplasia Abnormality of the larynx Abnormality of the middle ear Foot oligodactyly Ulcerative colitis Cholesteatoma Nonproductive cough Osteopathia striata Cleft ala nasi Abnormal adipose tissue morphology Bifid ureter Abnormality of the mediastinum Ectopia cordis Linear hyperpigmentation Abnormal palmar dermatoglyphics Caudal appendage Apocrine hidrocystoma Macular degeneration Giant cell tumor of bone Midclavicular hypoplasia Ridged fingernail Midclavicular aplasia Retinal dystrophy Absence of the sacrum Patchy alopecia Upper limb asymmetry Reticular hyperpigmentation Absent fingernail Verrucae Lower limb asymmetry Pointed chin Chorioretinal coloboma Colitis Skin ulcer Macule Short finger Hypermelanotic macule Supernumerary nipple Open bite Abnormality of dental morphology Stridor Ectopia lentis Dehydration Palmoplantar hyperkeratosis Short metatarsal Dermal atrophy Reduced number of teeth Fragile skin Arnold-Chiari malformation Oligodontia Spina bifida occulta Horseshoe kidney Congenital hip dislocation Cutaneous photosensitivity Vertebral fusion Hypoplastic pelvis Short clavicles Acute hepatic failure Diastasis recti Truncus arteriosus Myelomeningocele Stenosis of the external auditory canal Hiatus hernia Split foot Hypoplasia of the iris Pili torti Aniridia Abnormality of macular pigmentation Aplasia/Hypoplasia of the skin Immunologic hypersensitivity Abnormality of limb bone morphology Confusion Facial cleft Aplasia cutis congenita Hypoplastic nipples Anteriorly placed anus Sepsis Telangiectasia of the skin Abnormal blistering of the skin Skin vesicle Feeding difficulties Uveitis Pectus carinatum Cubitus valgus Abnormality of pelvic girdle bone morphology Abnormality of the fingernails Situs inversus totalis Heterotopia Microdontia Short distal phalanx of finger Thin vermilion border Genu valgum Atrial septal defect Emphysema Midnasal stenosis Pyriform aperture stenosis Prominent median palatal raphe Single naris Torus palatinus Hypothalamic hamartoma Cyclopia Abnormality of the nasopharynx Single median maxillary incisor Nasal obstruction Hypoplastic toenails Dextrocardia Hyposmia Abnormality of female internal genitalia Capitate-hamate fusion Conical incisor Abnormal oral frenulum morphology Common atrium Abnormality of bone marrow cell morphology Neonatal short-limb short stature Abnormal oral mucosa morphology Epispadias Abnormal hair quantity Hypoplastic iliac wing Hypoplastic left heart Acute leukemia Postaxial foot polydactyly Upper limb undergrowth Synostosis of carpal bones Abnormality of the ureter Natal tooth Abnormal heart valve morphology Disproportionate short stature Atrioventricular canal defect Agenesis of permanent teeth Panhypopituitarism Abnormality of chromosome segregation Short iliac bones Severe global developmental delay Non-midline cleft lip Diabetes insipidus Hypoplasia of the brainstem Poor head control Aplasia/Hypoplasia of the corpus callosum Cutaneous syndactyly Encephalocele Intellectual disability, profound Wide nose Craniosynostosis Megalocornea Protruding ear Low-set, posteriorly rotated ears Telecanthus Neonatal hypotonia Micropenis Posteriorly rotated ears Downslanted palpebral fissures Wide nasal bridge Epicanthus Depressed nasal bridge Aplasia/Hypoplasia of the radius Gonadotropin deficiency Maternal diabetes Growth hormone deficiency Median cleft lip Hamartoma Precocious puberty Tented upper lip vermilion Anosmia EMG: myopathic abnormalities Hemangioma Hypoplasia of penis Tetralogy of Fallot Premature birth Central diabetes insipidus Asthma Short philtrum Hypothyroidism Short nose Intellectual disability, mild Anteverted nares Lobar holoprosencephaly Hypoplasia of the frontal bone Duplication of thumb phalanx Long hallux Congenital megaureter Acetabular spurs Atonic seizures Muscular hypotonia Developmental regression Mental deterioration Photophobia Cerebral cortical atrophy Dementia Dilatation Intellectual disability, severe Hypoplasia of the corpus callosum Myopia Yellow subcutaneous tissue covered by thin, scaly skin Platyspondyly Type III lissencephaly Abnormality of limbs Ablepharon Short umbilical cord Small placenta Aplasia/Hypoplasia involving the skeletal musculature Choroid plexus cyst Bifid uterus Macrogyria Abnormality of the cerebellar vermis Hip dislocation Talipes Calcaneovalgus deformity Plagiocephaly Abnormality of the vertebral column Absent eyebrow Keratitis Intestinal obstruction Bifid scrotum Unilateral renal agenesis Psoriasiform dermatitis Urticaria Abnormality of the hand Opacification of the corneal stroma Astigmatism Conjunctivitis Recurrent bacterial infections Hemivertebrae Abnormal vertebral morphology Renal dysplasia Aganglionic megacolon Abnormality of the ribs Oligohydramnios Eczema Brain atrophy Abnormality of the philtrum Hydranencephaly Abnormality of the alveolar ridges Wide mouth Sloping forehead Cerebral calcification Bifid uvula Muscle cramps Everted lower lip vermilion Thick vermilion border Polymicrogyria Arthrogryposis multiplex congenita Muscular dystrophy Retrognathia Thick lower lip vermilion Osteopenia Proptosis Osteoporosis Edema Short neck Skeletal muscle atrophy High palate Cataract Abnormal facial shape Cone-shaped epiphyses of phalanges 2 to 5 Decreased fetal movement Pachygyria Abnormality of nervous system morphology External genital hypoplasia Generalized edema Lack of skin elasticity Abnormal cortical gyration Trismus Broad foot Abnormality of the mouth Severe intrauterine growth retardation Osteomalacia Transposition of the great arteries Prominent occiput Joint contracture of the hand Opisthotonus Abnormality of neuronal migration Bilateral cryptorchidism Rocker bottom foot Radial deviation of finger Large hands Rickets Patent foramen ovale Pterygium Lissencephaly Defective production of NFKB1-dependent cytokines


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