Abnormal facial shape, and Long philtrum

Diseases related with Abnormal facial shape and Long philtrum

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


Top matches:

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63; EIEE63


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63; EIEE63

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 DOMINANT 49; MRD49


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

Medium match X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY


X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY Is also known as mrgh

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY

Medium match PARIS-TROUSSEAU THROMBOCYTOPENIA


Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.

PARIS-TROUSSEAU THROMBOCYTOPENIA Is also known as chromosome 11q23 deletion syndrome

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about PARIS-TROUSSEAU THROMBOCYTOPENIA

Medium match LARGE CONGENITAL MELANOCYTIC NEVUS


A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.

LARGE CONGENITAL MELANOCYTIC NEVUS Is also known as gphn|pigmented moles|lcmn|giant congenital pigmented nevus|giant congenital melanocytic nevus|congenital pigmented nevus|giant pigmented hairy nevus|gmn

Related symptoms:

  • Seizures
  • Hypertelorism
  • Neoplasm
  • Failure to thrive
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about LARGE CONGENITAL MELANOCYTIC NEVUS

Medium match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE


BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE Is also known as bmrs, mkb type|bmrs, maat-kievit-brunner type|blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type|blepharophimosis-mental retardation syndrome, maat-kievit-brunner type|x-linked ohdo syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Micrognathia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE

Medium match ACHONDROGENESIS TYPE 1B


Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 1B Is also known as achondrogenesis, parenti-fraccaro type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Talipes equinovarus
  • Anteverted nares


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 1B

Medium match PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME


Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME Is also known as trisomy 17p11.2-p12|dup(17)(p11.2p12)|trisomy 17p11.2p12|yuan-harel-lupski syndrome|17p11.2p12 microduplication syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Long philtrum

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Triangular face Uncommon - Between 30% and 50% cases
Clinodactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Micrognathia Seizures Short nose High palate Short neck Anteverted nares Frontal bossing Pointed chin Generalized hypotonia Feeding difficulties Midface retrusion

Rare Symptoms - Less than 30% cases


Strabismus Dolichocephaly Failure to thrive Epicanthus Depressed nasal bridge Delayed speech and language development Smooth philtrum Wide nasal bridge Slender long bone Short thorax Severe short stature Absent speech Coarse facial features Thin upper lip vermilion Ptosis Delayed ability to walk Growth delay Protruding ear Upslanted palpebral fissure Malar flattening Hyperlordosis Prominent nose Bulbous nose Joint hypermobility Scrotal hypoplasia Macrocephaly Talipes equinovarus Cafe-au-lait spot Abnormality of cardiovascular system morphology Decreased body weight Thin vermilion border Rhabdomyosarcoma Blepharophimosis Hypermelanotic macule Narrow nasal ridge Cutaneous melanoma Periorbital fullness Calvarial skull defect Epidermal nevus Narrow nasal bridge Prominence of the premaxilla Thick hair Congenital giant melanocytic nevus Umbilical hernia Nevus spillus Hearing impairment Cryptorchidism Narrow mouth Carcinoma Polyhydramnios Downslanted palpebral fissures Narrow chest Sensory impairment Abnormal cardiac septum morphology Abnormality of the foot Poor speech Unsteady gait Distal sensory impairment Wide nose Broad-based gait Gait ataxia Decreased nerve conduction velocity Failure to thrive in infancy Decreased number of peripheral myelinated nerve fibers Onion bulb formation Syringomyelia Chronic constipation Joint laxity Constipation Micromelia Thickened nuchal skin fold Flat face Short foot Abnormality of the ribs Hydrops fetalis Cystic hygroma Disproportionate short stature Aplasia/Hypoplasia of the lungs Abnormal heart morphology Lethal skeletal dysplasia Femoral hernia Abnormal enchondral ossification Peripheral neuropathy Deep philtrum Areflexia Melanocytic nevus Neoplasm Sarcoma Prominent calcaneus Aspiration Growth hormone deficiency Delayed puberty Synophrys Intellectual disability, moderate Hypothyroidism Intellectual disability, mild Sandal gap Narrow palpebral fissure Downturned corners of mouth Wide mouth Aggressive behavior Hyperactivity Obesity Prominent nasal tip Spina bifida occulta Scapular winging Thick vermilion border Increased vertebral height Hip dysplasia Small for gestational age Abnormality of the skeletal system Overlapping toe Cerebral palsy Generalized-onset seizure Epileptic encephalopathy Generalized myoclonic seizures Inability to walk Abnormality of movement Cerebral cortical atrophy Spina bifida Adrenal insufficiency Melanoma Prominent forehead Hypopigmented skin patches Neoplasm of the skin Generalized hirsutism Subcutaneous nodule Open mouth Round face Nevus Full cheeks Broad nasal tip Everted lower lip vermilion Abnormality of skin pigmentation Pruritus Papule Broad forehead Hydrocephalus Hypopituitarism Megakaryocyte dysplasia Prolonged bleeding time Radial deviation of finger Trigonocephaly Pyloric stenosis Abnormality of the cardiovascular system Finger syndactyly Thrombocytopenia Syndactyly Intrauterine growth retardation Hepatomegaly Low-set ears Panhypopituitarism Myelomeningocele Demyelinating peripheral neuropathy



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Attention deficit hyperactivity disorder, related diseases and genetic alterations Melanoma and Hypothyroidism, related diseases and genetic alterations Intellectual disability, severe and Apraxia, related diseases and genetic alterations Fever and Umbilical hernia, related diseases and genetic alterations Cleft palate and Nail dystrophy, related diseases and genetic alterations

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