Abnormal facial shape, and Aganglionic megacolon

Diseases related with Abnormal facial shape and Aganglionic megacolon

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Aganglionic megacolon that can help you solving undiagnosed cases.


Top matches:

Low match X-LINKED COMPLICATED CORPUS CALLOSUM DYSGENESIS


X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Muscle weakness


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED COMPLICATED CORPUS CALLOSUM DYSGENESIS

Low match DISTAL 16P11.2 MICRODELETION SYNDROME


Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.

DISTAL 16P11.2 MICRODELETION SYNDROME Is also known as distal monosomy 16p11.2|distal del(16)(p11.2)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Kyphosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL 16P11.2 MICRODELETION SYNDROME

Low match INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED


Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion (Auricchio et al., 1996).Some primary forms of CIIP are caused by defects of enteric neuronal cells: see Hirschsprung disease (see, e.g., HSCR1; {142623}) and autosomal recessive visceral neuropathy (OMIM ) (Tanner et al., 1976).

INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED Is also known as intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement|ciipx|ipox|ciip, x-linked|congenital idiopathic intestinal pseudoobstruction|ciip

Related symptoms:

  • Seizures
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM MENDELIAN

More info about INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED

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Other less relevant matches:

Low match COLOBOMA OF IRIS


Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of one or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014). Genetic Heterogeneity of Ocular ColobomaA recessive form of ocular coloboma (OMIM ) is caused by mutation in the SALL2 gene (OMIM ) on chromosome 14q11.

COLOBOMA OF IRIS Is also known as coloboma of iris, choroid, and retina|coi|coloboma, uveoretinal

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLOBOMA OF IRIS

Low match FAMILIAL VISCERAL MYOPATHY


Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.

FAMILIAL VISCERAL MYOPATHY Is also known as familial hollow visceral myopathy|megaduodenum and/or megacystis|hereditary hollow visceral myopathy

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cleft palate
  • Anteverted nares
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL VISCERAL MYOPATHY

Low match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2


Hyperphosphatasia with mental retardation syndrome-2 is an autosomal recessive disorder characterized by moderately to severely delayed psychomotor development, facial dysmorphism, brachytelephalangy, and increased serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures (summary by Krawitz et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of hyperphosphatasia with mental retardation syndrome, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2 Is also known as glycosylphosphatidylinositol biosynthesis defect 6|gpibd6

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2

Low match X-LINKED CREATINE TRANSPORTER DEFICIENCY


X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.

X-LINKED CREATINE TRANSPORTER DEFICIENCY Is also known as slc6a8 deficiency|mental retardation, x-linked, with creatine transport deficiency|creatine deficiency syndrome, x-linked|mental retardation, x-linked, with seizures, short stature, and midface hypoplasia|creatine transporter deficiency|creatine transport

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED CREATINE TRANSPORTER DEFICIENCY

Low match JOUBERT SYNDROME


Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

JOUBERT SYNDROME Is also known as cerebelloparenchymal disorder iv|joubert syndrome type a|classic joubert syndrome|pure joubert syndrome|cpd iv|joubert-boltshauser syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME

Low match JOUBERT SYNDROME WITH RENAL DEFECT


Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.

JOUBERT SYNDROME WITH RENAL DEFECT Is also known as js-r

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH RENAL DEFECT

Low match JOUBERT SYNDROME WITH OCULAR DEFECT


Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.

JOUBERT SYNDROME WITH OCULAR DEFECT Is also known as joubert syndrome with retinopathy|js-o

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH OCULAR DEFECT

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Aganglionic megacolon

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Prominent nasal bridge Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Aganglionic megacolon. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ptosis Gait disturbance Long face Abnormality of cardiovascular system morphology Anteverted nares Cleft palate Iris coloboma Nystagmus Ataxia Vesicoureteral reflux Muscular hypotonia Agenesis of corpus callosum Hydrocephalus Delayed speech and language development Oral cleft Hypertelorism Oculomotor apraxia Encephalocele Cerebellar vermis hypoplasia Highly arched eyebrow Polymicrogyria Tremor Apnea Biparietal narrowing Strabismus Scoliosis Generalized hypotonia Spasticity Low-set, posteriorly rotated ears Hand polydactyly Feeding difficulties in infancy Feeding difficulties Abnormality of the hypothalamus-pituitary axis Abnormal pattern of respiration Retinal dystrophy

Rare Symptoms - Less than 30% cases


Foot polydactyly Neonatal hypotonia Motor delay Growth delay Hyperactivity Ventriculomegaly Attention deficit hyperactivity disorder Anonychia Constipation Broad forehead Cognitive impairment Molar tooth sign on MRI Autistic behavior Absent speech Chronic constipation Arachnodactyly Vomiting Failure to thrive Low-set ears Abdominal distention Hypertonia Joint hyperflexibility Abnormal vertebral morphology Open mouth Malar flattening Delayed myelination Chorea Dystonia Parkinsonism Joint hypermobility Irritability Ophthalmoplegia Hypermetropia Midface retrusion Behavioral abnormality Intellectual disability, moderate Abnormality of metabolism/homeostasis Pes cavus Muscular hypotonia of the trunk Aggressive behavior Choreoathetosis Dextrocardia Hypoplasia of the corpus callosum Intellectual disability, severe Mandibular prognathia Impaired social interactions Clumsiness Episodic tachypnea Poor hand-eye coordination Elongated superior cerebellar peduncle Abnormal form of the vertebral bodies Situs inversus totalis Aplasia/Hypoplasia of the corpus callosum Abnormality of neuronal migration Hypometric saccades Duodenal ulcer Breathing dysregulation Renal insufficiency Abnormality of the eye Abnormality of eye movement Nephropathy Apraxia Delayed gross motor development Abnormality of creatine metabolism Thickened superior cerebellar peduncle Tall stature Language impairment Stereotypy Exotropia Narrow face External ophthalmoplegia Cachexia Redundant skin Visual loss Urethral stenosis Mask-like facies Athetosis Myopathic facies Self-mutilation Speech apraxia Ileus Nephronophthisis Underfolded superior helices Atrial septal defect Short stature Intestinal obstruction Peripheral neuropathy Downslanted palpebral fissures Thrombocytopenia Patent ductus arteriosus Hydronephrosis Smooth philtrum Intestinal malrotation Pyloric stenosis Spastic diplegia Oval face Multiple lipomas Arthropathy Volvulus Intestinal pseudo-obstruction Increased mean platelet volume Congenital shortened small intestine Increased size of the mandible Hypertension Moderate receptive language delay Hyperuricemia Dilatation Headache Muscle weakness Intellectual disability, mild Cerebellar hypoplasia Severe global developmental delay Adducted thumb Partial agenesis of the corpus callosum Inferior vermis hypoplasia Kyphosis Obesity Chronic kidney disease Rod-cone dystrophy Narrow mouth Autism Proteinuria Abnormality of the kidney Migraine Renal agenesis Low anterior hairline Microphthalmia Glaucoma Perineal fistula Small nail Wide nasal bridge Short nose Upslanted palpebral fissure Abnormal cardiac septum morphology Pulmonic stenosis Anal atresia Broad nasal tip Generalized-onset seizure Plagiocephaly Abdominal situs inversus Tented upper lip vermilion Elevated alkaline phosphatase Broad hallux Long palpebral fissure Anal stenosis Peripheral pulmonary artery stenosis Anterior plagiocephaly Shortening of all distal phalanges of the fingers Megacystis Aplasia/Hypoplasia of the abdominal wall musculature Reduced visual acuity Peters anomaly Postnatal growth retardation Coloboma Corneal opacity Microcornea Aortic aneurysm Chorioretinal coloboma Increased intraocular pressure Optic nerve coloboma Remnants of the hyaloid vascular system Hyperparathyroidism Morning glory anomaly Optic nerve aplasia Micrognathia Umbilical hernia Joint stiffness Camptodactyly of finger Narrow chest Round face Hydroureter Retinal coloboma



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