Abnormal facial shape, and Dolichocephaly

Diseases related with Abnormal facial shape and Dolichocephaly

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


Top matches:

Medium match MENTAL RETARDATION, X-LINKED 72; MRX72


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Macrocephaly
  • Obesity


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 72; MRX72

Medium match THREE M SYNDROME 3; 3M3


The 3M syndrome is characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels (summary by Hanson et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of 3M syndrome, see 3M1 (OMIM ).

THREE M SYNDROME 3; 3M3 Is also known as 3m syndrome 3

Related symptoms:

  • Short stature
  • Growth delay
  • Frontal bossing
  • Abnormality of the skeletal system
  • Anteverted nares


SOURCES: OMIM MENDELIAN

More info about THREE M SYNDROME 3; 3M3

Medium match THREE M SYNDROME 2; 3M2


THREE M SYNDROME 2; 3M2 Is also known as 3m syndrome 2

Related symptoms:

  • Short stature
  • Frontal bossing
  • Anteverted nares
  • Short neck
  • Long philtrum


SOURCES: OMIM MESH MENDELIAN

More info about THREE M SYNDROME 2; 3M2

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Other less relevant matches:

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15

Medium match INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME


INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME Is also known as intellectual disability-loss of expressive language-facial dysmorphism syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME

Medium match POLYVALVULAR HEART DISEASE SYNDROME


Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.

POLYVALVULAR HEART DISEASE SYNDROME Is also known as phd syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Micrognathia
  • Ptosis
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about POLYVALVULAR HEART DISEASE SYNDROME

Medium match CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE


Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • High palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE

Medium match NOONAN SYNDROME 7; NS7


Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 7; NS7

Medium match AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME


Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.

AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME Is also known as ddod syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME

Medium match PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group K (CGK) have mutations in the PEX14 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Micrognathia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: MESH OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13A

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Dolichocephaly

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Pointed chin Uncommon - Between 30% and 50% cases
Long face Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Midface retrusion High palate Low-set ears Global developmental delay Generalized hypotonia Triangular face Short neck Malar flattening

Rare Symptoms - Less than 30% cases


Poor suck High forehead Wide nasal bridge Dental crowding Downslanted palpebral fissures Thin upper lip vermilion Pulmonic stenosis Slender long bone Prominent nose Ptosis Short philtrum Micrognathia Hyperlordosis Autism Frontal bossing Abnormality of the skeletal system Anteverted nares Growth delay Long philtrum Protruding ear Small for gestational age Obesity Feeding difficulties Gingival overgrowth Oligodontia Hypertrichosis Small nail Bilateral sensorineural hearing impairment Reduced number of teeth Hypotelorism Pectus carinatum Abnormality of the hand Hyperpigmentation of the skin Joint hypermobility Nail dysplasia Ectodermal dysplasia Short distal phalanx of finger Mild short stature Toe syndactyly Nail dystrophy Deeply set eye Pes planus Webbed neck Brachydactyly Triphalangeal thumb Narrow forehead Hearing impairment Thickened helices Sensorineural hearing impairment Anhidrotic ectodermal dysplasia Congenital sensorineural hearing impairment Abnormality of the eye Neonatal hyperbilirubinemia Dicarboxylic aciduria Delayed closure of the anterior fontanelle Posterior embryotoxon Central hypotonia Abnormality of neuronal migration Flat occiput Hyperbilirubinemia Large fontanelles Heterotopia Cholestasis Cyanosis Aciduria Polymicrogyria Muscular hypotonia of the trunk Anonychia Hypoplasia of teeth Agenesis of permanent teeth Abnormality of digit Aplasia cutis congenita Severe sensorineural hearing impairment Conical tooth High-frequency hearing impairment Selective tooth agenesis Abnormality of the nervous system Atrial septal defect Absent toenail Hidrotic ectodermal dysplasia Bilateral triphalangeal thumbs Hepatomegaly Jaundice Prominent forehead Camptodactyly Dysphagia Intellectual disability, moderate EEG abnormality Brachycephaly Absent speech Intellectual disability, mild Motor delay Long eyebrows Broad eyebrow Overweight Polyphagia Truncal obesity Short chin Wide nose Smooth philtrum Aggressive behavior Synophrys Delayed speech and language development Microcephaly Prominent calcaneus Prominent nasal tip Scapular winging Thick vermilion border Increased vertebral height Short thorax Hip dysplasia Clinodactyly Stereotypy Hyperactivity Macrocephaly Attention deficit hyperactivity disorder Cafe-au-lait spot Depressed nasal bridge Neonatal hypotonia Cognitive impairment Scoliosis Oval face Overlapping fingers Fetal akinesia sequence Scaphocephaly Akinesia Respiratory insufficiency due to muscle weakness Joint contracture of the hand Decreased fetal movement Single transverse palmar crease High, narrow palate Arachnodactyly Polyhydramnios Narrow palate Areflexia Myopathy Flexion contracture Abnormal heart valve morphology Tricuspid regurgitation Aortic valve stenosis Mitral valve prolapse Abnormality of the skin Joint hyperflexibility Broad forehead Abnormality of the pinna Delayed skeletal maturation Arrhythmia Abnormality of the nasal bridge



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