Macrocephaly, and Underdeveloped nasal alae

Diseases related with Macrocephaly and Underdeveloped nasal alae

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


Top matches:

High match BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME


Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, develomental delays, and craniofacial anomalies.

BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME Is also known as metaphyseal chondrodysplasia with retinitis pigmentosa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME

High match BOOMERANG DYSPLASIA


Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.

Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • Brachydactyly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BOOMERANG DYSPLASIA

High match SHORT SYNDROME


SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.

SHORT SYNDROME Is also known as lipodystrophy-rieger anomaly-diabetes syndrome|short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay|aarskog-ose-pande syndrome|lipodystrophy, partial, with rieger anomaly and short stature|rieger anomaly-partial

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT SYNDROME

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Other less relevant matches:

High match PROXIMAL 16P11.2 MICRODELETION SYNDROME


The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

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

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

High match 2Q37 MICRODELETION SYNDROME


Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION SYNDROME

High match FRONTONASAL DYSPLASIA 1; FND1


The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see {168500}); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported.Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.Also see acromelic frontonasal dysplasia (AFND ), frontofacionasal dysplasia (FFND ), oculoauriculofrontonasal syndrome (OAFNS ), the acrofrontofacionasal dysostosis syndromes ({201180}, {239710}), and craniofrontonasal syndrome (OMIM ). Genetic Heterogeneity of Frontonasal DysplasiaFrontonasal dysplasia-2 (FND2 ) is caused by mutation in the ALX4 gene (OMIM ) on chromosome 11p11. Frontonasal dysplasia-3 (FND3 ) is caused by mutation in the ALX1 gene (OMIM ) on chromosome 12q21.

FRONTONASAL DYSPLASIA 1; FND1 Is also known as frontonasal malformation|fnm|frontonasal dysplasia|median facial cleft syndrome|frontorhiny|fnd

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA 1; FND1

Medium match SECKEL SYNDROME 4; SCKL4


Seckel syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, severe microcephaly with mental retardation, and specific dysmorphic features (Faivre et al., 2002).For a general description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 4; SCKL4

Medium match NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL


NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27


Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27

Medium match DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY


Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Macrocephaly and Underdeveloped nasal alae

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Macrocephaly and Underdeveloped nasal alae. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intrauterine growth retardation Micrognathia Frontal bossing Hypertelorism Abnormal facial shape Brachydactyly Anteverted nares Delayed speech and language development Wide nasal bridge Abnormality of the skeletal system Depressed nasal bridge Clinodactyly Midface retrusion Cataract Growth delay Malar flattening Feeding difficulties Myopia Intellectual disability, mild Small hand Hernia Short nose Growth hormone deficiency Microphthalmia Inguinal hernia Alopecia Upslanted palpebral fissure Broad nasal tip Short chin Short neck Seizures Scoliosis Macrotia Epicanthus Strabismus Muscular hypotonia Deeply set eye Ptosis Cognitive impairment Cryptorchidism Hearing impairment

Rare Symptoms - Less than 30% cases


Cleft palate Obesity Behavioral abnormality Motor delay Ventriculomegaly Dilatation Radial deviation of finger Atrial septal defect Talipes Posteriorly rotated ears Abnormality of cardiovascular system morphology Postnatal microcephaly Short palpebral fissure High forehead Long eyelashes Long philtrum Broad columella Highly arched eyebrow Thick vermilion border Wide nose Sparse hair Conductive hearing impairment Thin upper lip vermilion Pes planus Brachycephaly Hydrocephalus Hyperactivity Attention deficit hyperactivity disorder Polydactyly Micropenis Autism Autistic behavior Blepharophimosis Coloboma Congenital diaphragmatic hernia Generalized hypotonia Abnormality of the face Narrow palpebral fissure Pyloric stenosis Anophthalmia Long nose Widely-spaced maxillary central incisors Decreased body weight Short toe Downturned corners of mouth Nystagmus Craniosynostosis Telecanthus Downslanted palpebral fissures Prominent forehead Abnormal heart morphology Finger syndactyly Sensorineural hearing impairment Severe short stature Failure to thrive Joint hyperflexibility Hypotrichosis Intellectual disability, moderate Short distal phalanx of finger Short palm Small nail Renal cyst Short metacarpal Tetralogy of Fallot Cleft lip Camptodactyly Oral cleft Postaxial polydactyly Postural instability Hypoplasia of the maxilla Dandy-Walker malformation Decreased testicular size Lymphedema Diabetes insipidus Rod-cone dystrophy Oligohydramnios Preaxial polydactyly Fine hair Easy fatigability Encephalocele Abnormality of the genital system Hypothyroidism Heterotopia Scrotal hypoplasia Joint contracture of the hand Preauricular skin tag Postaxial hand polydactyly Pain insensitivity Hypogonadism Nephroblastoma Wide intermamillary distance Eczema Narrow forehead Sparse scalp hair Broad-based gait Stereotypy Short phalanx of finger Sparse and thin eyebrow Aortic valve stenosis Bilateral single transverse palmar creases Multicystic kidney dysplasia Laryngomalacia Short metatarsal Self-injurious behavior Agenesis of corpus callosum Obsessive-compulsive behavior Mild short stature Supernumerary nipple Tracheomalacia Overweight Low hanging columella Renal neoplasm Broad face Subvalvular aortic stenosis Nyctalopia Abnormal aortic morphology Multiple lipomas Self-biting Talipes equinovarus Adrenal insufficiency Meningocele Partial agenesis of the corpus callosum Proportionate short stature Abnormality of the cerebral white matter Hypermetropia Prominent nose Ventricular septal defect Sandal gap Overlapping toe Broad hallux Slender finger Short philtrum Everted lower lip vermilion Full cheeks Hypertrichosis Open mouth Underdeveloped supraorbital ridges Abnormality of the nares Steep acetabular roof Hypoplastic fifth toenail Abnormality of the columella High palate Hypoplasia of the corpus callosum Dystonia Acidosis Lactic acidosis Hepatic failure Bulbous nose Metabolic acidosis Delayed myelination Aciduria Infantile muscular hypotonia Tented upper lip vermilion Narrow mouth 11 pairs of ribs Occipital encephalocele Bifid nose Facial cleft Median cleft lip Lipoma Retinal degeneration Coronal craniosynostosis Short columella Calvarial skull defect Widow's peak Preaxial foot polydactyly Conical tooth Bifid nasal tip Alopecia totalis Broad philtrum Agenesis of cerebellar vermis Parietal foramina Severe failure to thrive Median cleft palate Absent tibia Hypoplastic frontal sinuses Scleral staphyloma Morning glory anomaly Cranium bifidum occultum Lipoma of corpus callosum Frontal cutaneous lipoma Pectoral muscle hypoplasia/aplasia Midline facial cleft Anterior basal encephalocele Blindness Retrognathia Postnatal growth retardation Round face Scarring Sleep disturbance Weight loss Abnormal anterior chamber morphology Narrow naris Abnormality of the mandible Rieger anomaly Enlarged epiphyses Birth length less than 3rd percentile Hypoplastic facial bones Abnormality of the zygomatic bone Hip dislocation Neurological speech impairment Corneal opacity Small for gestational age Joint laxity Glaucoma Dimple chin Diabetes mellitus Hypertension Delayed skeletal maturation Respiratory insufficiency Congestive heart failure Depressivity Abnormality of the dentition Immunodeficiency Recurrent infections Poorly ossified vertebrae Hypoplastic nasal septum Hypoplastic iliac body Severe short-limb dwarfism Excessive wrinkled skin Abnormal pupil morphology Abnormally ossified vertebrae Abnormality of dental enamel Microcornea Hypodontia Triangular face Dental malocclusion Abnormality of the skin Microdontia Bilateral sensorineural hearing impairment Thin skin Joint hypermobility Insulin resistance Increased body weight Congenital hip dislocation Nephrocalcinosis Opacification of the corneal stroma Premature skin wrinkling Prominent supraorbital ridges Lipodystrophy Hyperglycemia Glucose intolerance Congenital glaucoma Reduced subcutaneous adipose tissue Lipoatrophy Abnormality of the immune system Poor appetite Megalocornea Insulin-resistant diabetes mellitus Posterior embryotoxon Hypoplasia of the iris Increased intraocular pressure Aplasia/Hypoplasia of the fibula Gastroesophageal reflux Short foot Narrow chest Multiple renal cysts Missing ribs Hydrocele testis Optic nerve coloboma Pulmonary artery atresia Chorioretinitis Short ribs Absent nasal bridge Hydrops fetalis Neoplasm Pain Omphalocele Micromelia Arrhythmia Arnold-Chiari type I malformation Hyporeflexia Clinodactyly of the 5th finger Polyhydramnios Coarse facial features Umbilical hernia Metaphyseal chondrodysplasia Congenital blindness Horseshoe kidney Aggressive behavior Feeding difficulties in infancy Delayed eruption of teeth Toe syndactyly Thin vermilion border Severe intrauterine growth retardation Severe combined immunodeficiency EEG abnormality Abnormality of femur morphology Abnormality of the pinna Abnormal bone ossification Wide mouth Abnormality of the radius Fibular aplasia Abnormality of the humerus Broad forehead Coronal cleft vertebrae Smooth philtrum Flat face Aplasia/Hypoplasia of the abdominal wall musculature Tapered finger Renal agenesis Psychosis Syringomyelia Abnormality of tibia morphology Pointed chin Hemivertebrae Abnormality of the ulna Microretrognathia Aortic regurgitation Aplasia/Hypoplasia of the lungs Bilateral ptosis Hand polydactyly Language impairment Absent radius Unilateral renal agenesis Combined immunodeficiency Abnormality of the metacarpal bones Adducted thumb



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