Macrocephaly, and Postaxial hand polydactyly

Diseases related with Macrocephaly and Postaxial hand polydactyly

In the following list you will find some of the most common rare diseases related to Macrocephaly and Postaxial hand polydactyly that can help you solving undiagnosed cases.

Top matches:

This disorder comprises macrocephaly, megalencephaly, ventriculomegaly, polymicrogyria, and polydactyly. Most affected individuals have severely delayed psychomotor development (summary by Mirzaa et al., 2014).For a discussion of genetic heterogeneity of MPPH, see MPPH1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Macrocephaly
  • Ventriculomegaly
  • Hydrocephalus
  • Absent speech


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3; MPPH3

MPPH2 is an overgrowth syndrome comprising megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome (MCAP ) (summary by Gripp et al., 2009).For a discussion of genetic heterogeneity of MPPH, see {603387}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Macrocephaly
  • Ventriculomegaly
  • Hypoplasia of the corpus callosum


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2; MPPH2

Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 2 Is also known as achondrogenesis, langer-saldino type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Anteverted nares
  • Short neck


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 2

Other less relevant matches:

Related symptoms:

  • Neoplasm
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTHALAMIC HAMARTOMAS

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

ACROCALLOSAL SYNDROME Is also known as acs

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Micrognathia
  • Brachydactyly
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 3; CED3

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.

MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME Is also known as meg-pmg-megacc syndrome|mpph syndrome|megalencephaly, polymicrogyria, mega corpus callosum syndrome|mpph|megalencephaly, mega corpus callosum, and complete lack of motor development

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).SRTD15 is characterized by narrow thorax, oral and cardiovascular anomalies, short long bones, and postaxial polydactyly, in addition to other congenital anomalies. Considerable variability in features and in severity has been reported, with some affected individuals succumbing shortly after birth and others living to adulthood, even within the same family.For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Low-set ears
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15

Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012).For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (OMIM ).

HOLOPROSENCEPHALY 9; HPE9 Is also known as holoprosencephaly with microphthalmia and first branchial arch anomalies|pituitary anomalies with holoprosencephaly-like features

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 9; HPE9

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HYDROLETHALUS SYNDROME 1; HLS1

Top 5 symptoms//phenotypes associated to Macrocephaly and Postaxial hand polydactyly

Symptoms // Phenotype % cases
Polydactyly Common - Between 50% and 80% cases
Postaxial polydactyly Common - Between 50% and 80% cases
Hydrocephalus Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Macrocephaly and Postaxial hand polydactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Median cleft lip Micrognathia Ventricular septal defect Short stature Narrow chest Polyhydramnios Micropenis Syndactyly Frontal bossing Seizures Oral cleft Ventriculomegaly Cleft lip Intellectual disability Megalencephaly Polymicrogyria Pulmonary hypoplasia

Rare Symptoms - Less than 30% cases

Sloping forehead Complete atrioventricular canal defect Short ribs Hamartoma Respiratory distress Generalized hypotonia Hypertelorism Cryptorchidism Intellectual disability, severe Hypospadias Dandy-Walker malformation Coarctation of aorta Agenesis of corpus callosum Abnormal cortical gyration Abnormal facial shape Brachydactyly Bilateral postaxial polydactyly Bilateral cleft lip and palate Microphthalmia Bilateral cleft lip Telecanthus Pulmonic stenosis Holoprosencephaly Limb undergrowth Nephronophthisis Low-set ears Skeletal dysplasia Short nose Thick corpus callosum Micromelia Capillary malformation Prominent forehead Abnormality of cardiovascular system morphology Cleft palate Hypoplasia of the corpus callosum Absent speech Partial atrioventricular canal defect Accessory oral frenulum Growth hormone deficiency Bifid uterus Hydrometrocolpos Hypoplasia of the epiglottis Duplication of phalanx of hallux Hypoplasia of the maxilla Microcephaly Dental malocclusion Midface retrusion Horizontal ribs Laryngeal hypoplasia Macrotia Short philtrum Microtia Malar flattening Thoracic dysplasia Agenesis of the diaphragm Small nail Respiratory insufficiency Splenomegaly Patent ductus arteriosus Hepatosplenomegaly Cleft in skull base Cleft upper lip Hypodontia Nail dysplasia Adrenal gland dysgenesis Horseshoe kidney Vaginal atresia Cutaneous syndactyly Cone-shaped epiphysis Mesomelia Atrioventricular canal defect Metaphyseal dysplasia Increased number of teeth Spinal canal stenosis Short clavicles Severe hydrocephalus Hypotelorism Accessory spleen Preauricular skin tag Agenesis of incisor Upper limb undergrowth Underdeveloped tragus Single naris Short hard palate Abnormal lung lobation Anencephaly Absent septum pellucidum Anterior pituitary agenesis Preaxial hand polydactyly Preaxial polydactyly Hypoplasia of the premaxilla Asymmetric ventricles Diastolic heart murmur Intrauterine growth retardation Talipes equinovarus Heterotopia Encephalocele Hydronephrosis Abnormality of the pinna Omphalocele Broad neck Downslanted palpebral fissures Hemivertebrae Abnormal vagina morphology Premature birth Optic nerve hypoplasia Patent foramen ovale Heart murmur Anophthalmia Neurodevelopmental delay Partial agenesis of the corpus callosum Arrhinencephaly Skin tags Bifid nose Alobar holoprosencephaly Preaxial foot polydactyly Tracheal stenosis Large forehead Panhypopituitarism Anterior pituitary hypoplasia Median cleft lip and palate Wide cranial sutures Single median maxillary incisor Semilobar holoprosencephaly Prominent antihelix Thoracic hemivertebrae Blindness Hepatomegaly Congenital diaphragmatic hernia Microglossia Anterior hypopituitarism Glioma Hypothalamic hamartoma Ataxia Sensorineural hearing impairment Inguinal hernia Retinopathy Retinal dystrophy Ambiguous genitalia Apraxia Renal dysplasia Tall stature Wide anterior fontanel Oculomotor apraxia Aplasia/Hypoplasia of the corpus callosum Triphalangeal thumb Aplasia/Hypoplasia of the cerebellum Prominent occiput Molar tooth sign on MRI Abnormality of the clavicle Abnormality of the skeletal system Occipital encephalocele Hip dislocation Rod-cone dystrophy Flat face Perisylvian polymicrogyria Frontoparietal polymicrogyria Overgrowth Hyperextensible skin Cutis marmorata Hemimegalencephaly Anteverted nares Short neck Long philtrum Umbilical hernia Abdominal distention Abnormal heart morphology Hydrops fetalis Disproportionate short-limb short stature Thoracic hypoplasia Cystic hygroma Thickened nuchal skin fold Aplasia/Hypoplasia of the lungs Lethal skeletal dysplasia Femoral hernia Abnormal enchondral ossification Neoplasm Renal insufficiency Joint laxity Epicanthus Large for gestational age Atrial septal defect Kyphosis Narrow mouth High forehead Muscular hypotonia of the trunk Abnormal cardiac septum morphology Intellectual disability, profound Mitral regurgitation Pachygyria Knee flexion contracture Cortical dysplasia Motor delay Infantile spasms Long palpebral fissure Thoracic scoliosis Abnormally large globe Dilation of lateral ventricles Abnormal localization of kidney Cavum septum pellucidum Abnormal nasal morphology Vascular ring Scoliosis Skeletal muscle atrophy Visual impairment Craniosynostosis Hepatic fibrosis Sparse hair Toe syndactyly Dry skin Stage 5 chronic kidney disease Cirrhosis Everted lower lip vermilion Ectodermal dysplasia Fine hair Cholestasis Rhizomelia Sandal gap Ptosis Cutis laxa Widely spaced teeth Chronic kidney disease Scaphocephaly Hypoplasia of teeth Sagittal craniosynostosis Peripheral pulmonary artery stenosis Short nail Broad nail 3-4 toe syndactyly Proximal tibial hypoplasia


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