Intrauterine growth retardation, and Holoprosencephaly

Diseases related with Intrauterine growth retardation and Holoprosencephaly

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


Top matches:

Medium match LETHAL INTRAUTERINE GROWTH RESTRICTION-CORTICAL MALFORMATION-CONGENITAL CONTRACTURES SYNDROME


Holoprosencephaly-hypokinesia syndrome is an extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. There have been no further descriptions in the literature since 1988.

LETHAL INTRAUTERINE GROWTH RESTRICTION-CORTICAL MALFORMATION-CONGENITAL CONTRACTURES SYNDROME Is also known as morse-rawnsley-sargent syndrome

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Low-set ears
  • Intrauterine growth retardation
  • Short neck


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about LETHAL INTRAUTERINE GROWTH RESTRICTION-CORTICAL MALFORMATION-CONGENITAL CONTRACTURES SYNDROME

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

Medium match HYDROLETHALUS SYNDROME 1; HLS1


Related symptoms:

  • Micrognathia
  • Cleft palate
  • Low-set ears
  • Intrauterine growth retardation
  • Macrocephaly


SOURCES: MESH OMIM MENDELIAN

More info about HYDROLETHALUS SYNDROME 1; HLS1

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Other less relevant matches:

Medium match SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 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

Medium match MONOSOMY 13Q14


Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

MONOSOMY 13Q14 Is also known as del(13)(q14)|chromosome 13q deletion syndrome|deletion 13q14

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MONOSOMY 13Q14

Medium match CORNELIA DE LANGE SYNDROME 2; CDLS2


Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 4 to 6% of patients have mutations in the X-linked SMC1A gene, whereas about 60% have mutations in the NIPBL gene (OMIM ) on chromosome 5p13 (CDLS1 ) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

CORNELIA DE LANGE SYNDROME 2; CDLS2 Is also known as cornelia de lange syndrome, x-linked|cdls, x-linked

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 2; CDLS2

Medium match CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE


Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

Medium match SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE


Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.

SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE Is also known as short rib syndrome, beemer type|srps iv|short rib-polydactyly syndrome type 4|short rib-polydactyly syndrome, type iv|beemer-langer syndrome|srps4

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears
  • Epicanthus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE

Medium match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME


Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Medium match PALLISTER-HALL SYNDROME; PHS


Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations (Biesecker et al., 1996).

PALLISTER-HALL SYNDROME; PHS Is also known as hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about PALLISTER-HALL SYNDROME; PHS

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Microphthalmia Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Abnormal facial shape Ventricular septal defect Short stature Seizures Global developmental delay Brachydactyly Agenesis of corpus callosum Macrocephaly Downslanted palpebral fissures Epicanthus Short neck Cleft lip Aplasia/Hypoplasia of the corpus callosum Ptosis Short nose Cleft upper lip Hydrocephalus Polydactyly Growth hormone deficiency Semilobar holoprosencephaly Clinodactyly Abnormal heart morphology Absent septum pellucidum High forehead Encephalocele Abnormality of cardiovascular system morphology Dandy-Walker malformation Polyhydramnios Hydronephrosis Abnormality of the pinna Coloboma Frontal bossing Anencephaly Abnormal lung lobation Median cleft lip Cognitive impairment Cataract Muscular hypotonia Generalized hypotonia Ambiguous genitalia Scoliosis Anteverted nares Hypotelorism Ventriculomegaly Oral cleft Single transverse palmar crease Syndactyly Respiratory insufficiency Wide nasal bridge Micropenis Depressed nasal bridge Cryptorchidism Hypertelorism Hypospadias Deeply set eye Hip dislocation Dolichocephaly Posteriorly rotated ears

Rare Symptoms - Less than 30% cases


Hearing impairment Brachycephaly Aortic regurgitation Abnormal dermatoglyphics Neoplasm Strabismus Renal hypoplasia Accessory spleen Limb undergrowth Aplasia/Hypoplasia of the cerebellum Ascites Sloping forehead Intellectual disability, mild Preaxial foot polydactyly Choanal atresia Duodenal atresia Finger clinodactyly Hamartoma Anophthalmia Precocious puberty Hemivertebrae Respiratory tract infection Natal tooth Depressed nasal ridge Hypothyroidism Short foot Microretrognathia Hypothalamic hamartoma Renal agenesis Blepharophimosis EEG abnormality Iris coloboma Wide intermamillary distance Camptodactyly of finger Renal cyst High palate Multiple joint contractures Protruding ear Respiratory distress Atrial septal defect Feeding difficulties Neonatal hypotonia Prominent nasal bridge Clinodactyly of the 5th finger Low-set, posteriorly rotated ears Glaucoma Thick eyebrow Thin upper lip vermilion Hypoplasia of the brainstem Apnea Cutaneous syndactyly Craniosynostosis Muscular dystrophy Ectodermal dysplasia Microglossia Intellectual disability, severe Dilatation Omphalocele Wide nose Delayed speech and language development Patent foramen ovale Patent ductus arteriosus Bulbous nose Preaxial polydactyly Panhypopituitarism Postaxial hand polydactyly Pulmonary hypoplasia Premature birth Postaxial polydactyly Talipes equinovarus Thoracic dysplasia Pancreatic cysts Cystic renal dysplasia Single umbilical artery Periportal fibrosis Median cleft lip and palate Bifid tongue Lobulated tongue Hypoplastic scapulae Hamartoma of tongue Fetal ascites Atelectasis Horizontal ribs Inguinal hernia Broad foot Weak cry Cerebellar cyst Exaggerated startle response Type II lissencephaly Cerebellar dysplasia Buphthalmos Myocardial fibrosis Retinal dysplasia Ankle contracture Atrophy/Degeneration affecting the brainstem Transposition of the great arteries Hypoglycosylation of alpha-dystroglycan Spinal rigidity Cortical dysplasia Generalized amyotrophy Calf muscle hypertrophy Increased variability in muscle fiber diameter Skeletal muscle hypertrophy Mask-like facies Congenital muscular dystrophy Plagiocephaly Agyria Thoracic hemivertebrae Protuberant abdomen Bilateral single transverse palmar creases Hypoplastic nipples Broad palm Short finger Milia Short thorax Bowing of the legs Metaphyseal irregularity Short long bone Disproportionate short-limb short stature Short ribs Cephalocele Short toe Intestinal malrotation Short palm Flat face Talipes Narrow chest Splenomegaly Edema Hepatomegaly Hypoplasia of the pyramidal tract Pancreatic dysplasia Abnormality of immune system physiology Bowing of the arm Hydroureter Short 4th metacarpal Adrenal hypoplasia Postaxial foot polydactyly Oligodactyly Hypopituitarism External genital hypoplasia Mesomelia Ectopic kidney Decreased circulating cortisol level Adrenal insufficiency Bilateral cryptorchidism Atresia of the external auditory canal Scrotal hypoplasia Renal dysplasia Abnormality of the genital system Small nail Decreased testicular size Upper airway obstruction Rib fusion Bifid uvula Mesoaxial hand polydactyly Mesoaxial foot polydactyly Midline facial capillary hemangioma Distal shortening of limbs Preductal coarctation of the aorta Primitive neuroectodermal tumor Bifid epiglottis Distal urethral duplication Y-shaped metacarpals Thyroid dysgenesis Vaginal atresia Mesoaxial polydactyly Laryngeal cleft Radial head subluxation Hydrometrocolpos Hypoplasia of the epiglottis Mandibular aplasia Bilateral choanal atresia Microphallus Nail dysplasia Anal atresia Intrahepatic bile duct cysts Coarctation of aorta Abnormality of vision Sleep apnea Osteolysis Multicystic kidney dysplasia Cafe-au-lait spot Rhizomelia Short palpebral fissure Triangular face Nephroblastoma Long face Abnormality of skin pigmentation Small for gestational age Corneal opacity Abnormality of the eye Delayed skeletal maturation Abnormality of the skeletal system Absent internal genitalia Myelodysplasia Colon cancer Toe syndactyly Increased nuchal translucency Microtia Abnormality of the kidney Dyspnea Respiratory failure Behavioral abnormality Vaginal neoplasm Premature chromatid separation Epidermoid cyst Abnormal aortic morphology Atrioventricular canal defect Stomach cancer Rhabdomyosarcoma Subvalvular aortic stenosis Intestinal polyposis Abnormality of the upper limb Abnormality of the skull Acute lymphoblastic leukemia Multiple cafe-au-lait spots Lissencephaly Smooth philtrum Knee flexion contracture Adrenal gland dysgenesis Tetralogy of Fallot Specific learning disability Asthma Short philtrum Severe short stature Proximal tibial hypoplasia Cleft in skull base Agenesis of the diaphragm Hemangioma Bifid uterus Duplication of phalanx of hallux Laryngeal hypoplasia Severe hydrocephalus Arrhinencephaly Abnormal vagina morphology Bifid nose Hypoplasia of penis EMG: myopathic abnormalities Abnormal cortical gyration Cyclopia Long philtrum Hypoplasia of the corpus callosum Midnasal stenosis Pyriform aperture stenosis Prominent median palatal raphe Single naris Torus palatinus Abnormality of the nasopharynx Anosmia Single median maxillary incisor Nasal obstruction Hyposmia Abnormality of chromosome segregation Maternal diabetes Narrow nasal bridge Tented upper lip vermilion Complete atrioventricular canal defect Tracheal stenosis Muscular hypotonia of the trunk Abnormality of the pleura Intellectual disability, profound Severe global developmental delay Telecanthus Hypogonadism Abnormality of the diencephalon Enlarged thorax Hydranencephaly Fetal akinesia sequence Poor head control Aplasia/Hypoplasia of the lungs Adducted thumb Renal hypoplasia/aplasia Interphalangeal joint contracture of finger Decreased fetal movement Limitation of joint mobility Cerebral cortical atrophy Split hand Diabetes insipidus Bilateral cleft lip and palate Duplication of thumb phalanx Bilateral cleft lip Broad neck Upper limb undergrowth Preaxial hand polydactyly Heterotopia Lobar holoprosencephaly Hypoplasia of the frontal bone Hypernatremia Non-midline cleft lip Long hallux Central diabetes insipidus Gonadotropin deficiency Megalocornea Aplasia/Hypoplasia of the radius Ectrodactyly Abnormality of digit Hernia Wide mouth EMG abnormality Visual impairment Pectus excavatum Myopathy Gait disturbance Optic atrophy Skeletal muscle atrophy Myopia Motor delay Flexion contracture Elevated serum creatine phosphokinase Muscle weakness Skull asymmetry Curly eyelashes Limited elbow movement Hemihypertrophy Enlarged cisterna magna Prominent metopic ridge Areflexia Cerebellar hypoplasia Proximal placement of thumb Abnormal cerebellum morphology Congenital hip dislocation Bradycardia Preauricular skin tag Pachygyria Cerebellar vermis hypoplasia Brain atrophy Generalized muscle weakness Retinal detachment Rigidity Polymicrogyria Pulmonic stenosis Congenital cataract Hypermetropia Arthrogryposis multiplex congenita Abnormality of the cerebral white matter Dilated cardiomyopathy Cutis marmorata Widely spaced teeth Broad forehead Supernumerary nipple Spasticity Leukocoria Anteverted ears Retinoblastoma Thickened helices Abnormality of the gastrointestinal tract Aplasia/Hypoplasia of the thumb Trigonocephaly Recurrent respiratory infections Deep philtrum Wide anterior fontanel Open mouth Webbed neck Everted lower lip vermilion Thin vermilion border Finger syndactyly Absent speech Gastroesophageal reflux Low anterior hairline Esotropia Long eyelashes Decreased body weight Mitral regurgitation Ventricular hypertrophy Mitral valve prolapse Narrow forehead Febrile seizures Full cheeks Hypertrophic cardiomyopathy Highly arched eyebrow Small hand Downturned corners of mouth Hirsutism Poor speech Synophrys Sparse hair Diverticulosis of trachea



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