Abnormal facial shape, and Underdeveloped nasal alae

Diseases related with Abnormal facial shape and Underdeveloped nasal alae

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


Top matches:

Medium match OVARIAN DYSGENESIS 7; ODG7


Ovarian dysgenesis-7 is characterized by primary amenorrhea, delayed puberty, elevated gonadotropic hormones, and small uterus and ovaries. Ovarian histology shows fibrotic ovaries without follicles (Chen et al., 2018).

Related symptoms:

  • Abnormal facial shape
  • Ptosis
  • Delayed skeletal maturation
  • Hypogonadism
  • Thin upper lip vermilion


SOURCES: OMIM MENDELIAN

More info about OVARIAN DYSGENESIS 7; ODG7

Medium match ZIMMERMANN-LABAND SYNDROME 2; ZLS2


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME 2; ZLS2

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

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Other less relevant matches:

Medium match DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA


Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.

DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA Is also known as microdontia-type i microtia-deafness syndrome|deafness, congenital, with labyrinthine aplasia, microtia, and microdontia|deafness with lamm|lamm syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA

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

Medium match ALAZAMI-YUAN SYNDROME; ALYUS


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALAZAMI-YUAN SYNDROME; ALYUS

Medium match SWEENEY-COX SYNDROME; SWCOS


Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SWEENEY-COX SYNDROME; SWCOS

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB


MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by Bain et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Underdeveloped nasal alae

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

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Delayed speech and language development Strabismus Micrognathia Prominent nose Short philtrum Wide nasal bridge Synophrys High palate Epicanthus Thick vermilion border Long eyelashes Hearing impairment Narrow mouth Hypotelorism Feeding difficulties Postnatal microcephaly Thin upper lip vermilion Short palpebral fissure Seizures Thick eyebrow Hirsutism

Rare Symptoms - Less than 30% cases


Long philtrum Pes planus Short columella Cryptorchidism Sparse hair Narrow chest Prominent nasal bridge Broad hallux Short chin Downslanted palpebral fissures Microtia Long face Ptosis Spasticity Low-set ears Depressed nasal bridge Clinodactyly Anteverted nares Short nose Midface retrusion Highly arched eyebrow Gastroesophageal reflux Hypertonia Hyperactivity Widow's peak Cataract Growth delay Upslanted palpebral fissure Hypertrichosis Sensorineural hearing impairment Small nail Thick upper lip vermilion Autistic behavior Craniosynostosis Talipes Anal atresia Hyperlordosis Choanal atresia Developmental regression Cerebellar hypoplasia Wide anterior fontanel Generalized hirsutism Cutaneous syndactyly Overfolded helix Joint laxity Cupped ear Brachycephaly Syndactyly Wide mouth Dental crowding Neonatal hypotonia Self-injurious behavior Stereotypy Poor speech Single transverse palmar crease Wide intermamillary distance Low anterior hairline Attention deficit hyperactivity disorder Thick lower lip vermilion Abnormal cerebellum morphology Unilateral cryptorchidism Curly eyelashes Pectus carinatum Cleft palate Talipes equinovarus Aggressive behavior Autism Bilateral talipes equinovarus Esotropia Postnatal growth retardation Blepharophimosis Absent speech Small for gestational age Behavioral abnormality Gait disturbance Eczema Muscular hypotonia of the trunk Failure to thrive Ataxia Scoliosis Broad-based gait Progressive microcephaly Narrow face Brisk reflexes Telecanthus Pes cavus Anxiety Velopharyngeal insufficiency Long fingers Achilles tendon contracture Gait ataxia Prominent metopic ridge Short clavicles Broad neck Asplenia Median cleft palate Elevated serum creatine phosphokinase Upper eyelid coloboma Hyperreflexia Dysarthria Intellectual disability, severe Myopathy Abnormality of the dentition Constipation Smooth philtrum Long nose Adducted thumb Sandal gap Prominent nasal septum Myopia Abnormality of the skeletal system Abnormality of the cerebral white matter Hypermetropia Small hand Broad nasal tip Overlapping toe Bifid nasal tip Slender finger Abnormality of the pinna Hypodontia Microdontia Tall stature Pointed chin Widely spaced teeth Broad eyebrow Anonychia Delayed gross motor development Hypergonadotropic hypogonadism Delayed skeletal maturation Hypogonadism Deeply set eye Delayed puberty Polyneuropathy Amenorrhea Primary amenorrhea Hypoplasia of the uterus Deep philtrum Increased circulating gonadotropin level Short neck Kyphosis Coarse facial features Joint hypermobility Macroglossia Depressed nasal ridge Gingival overgrowth Abnormality of the outer ear Congenital sensorineural hearing impairment Tented upper lip vermilion Microphthalmia Abnormality of the nares Hypoplastic fifth toenail Abnormality of the columella Muscular hypotonia Frontal bossing Hypoplasia of the corpus callosum Dystonia Acidosis Underdeveloped supraorbital ridges High forehead Lactic acidosis Hepatic failure Bulbous nose Metabolic acidosis Delayed myelination Aciduria Infantile muscular hypotonia Proportionate short stature Open mouth High hypermetropia Microtia, first degree Increased number of teeth Arachnoid cyst Skin tags Abnormal cranial nerve morphology Conical tooth Anteverted ears Profound sensorineural hearing impairment Cochlear aplasia Growth hormone deficiency Aplasia of the inner ear Absent stapes Intrauterine growth retardation Intellectual disability, mild Posteriorly rotated ears Short distal phalanx of finger Everted lower lip vermilion Full cheeks Obsessive-compulsive behavior



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Respiratory distress, related diseases and genetic alterations Flexion contracture and Joint stiffness, related diseases and genetic alterations Cardiomyopathy and Parkinsonism, related diseases and genetic alterations Cleft palate and Coarse facial features, related diseases and genetic alterations Sensorineural hearing impairment and Agenesis of corpus callosum, related diseases and genetic alterations

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